Medline Abstracts, Arthrogryposis, 1989-96

J Med Genet 1994 Oct;31(10):820
NLM CIT. ID: 95139059

Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome [letter; comment]

Saraiva JM; Mota HC

COMMENT:
J Med Genet 1994 Jan;31(1):62-4

Publication Types:

  • Comment
  • Letter

Language:

  • English

[back to list


J Pediatr Orthop 1994 Nov-Dec;14(6):768-72
NLM CIT. ID: 95114083

Foot deformities in arthrogryposis multiplex congenita.

Soderg;Richard J; Ryoppy S

Department of Surgery and Orthopedics, Children's Hospital,
University Central Hospital, Helsinki, Finland.

Foot deformities are common in arthrogryposis multiplex congenita. In this group of 52 patients with this diagnosis, 43 had foot deformities. The involvement was bilateral in all cases, and the most common type of deformity was talipes equinovarus (72 feet). The primary treatment in 52 of these patients was operative. Brockmann's procedure was the preferred method during the earlier years and posteromedial or posteromedioplantar release since 1974. Recurrences of the deformity are common; 36
operative procedures were done in 15 feet for recurrence of talipes equinovarus. The primary operative treatment should be extensive enough to correct all components of the deformity. Knee and hip deformity will often influence the outcome. Knee deformities especially cause problems in retaining the desired position of the feet. Talectomy and bone decancellations both seem to be effective in treating recurrences.

Publication Types:

  • Journal Article

Language:

  • English

[back to list


Am J Hum Genet 1994 Dec;55(6):1153-8
NLM CIT. ID: 95067978

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Bamshad M; Watkins WS; Zenger RK; Bohnsack JF;
Carey JC; Otterud B; Krakowiak PA; Robertson M; Jorde LB

Department of Pediatrics, University of Utah Health Sciences
Center, Salt Lake City 84132-1001.

Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped.

Publication Types:

  • Journal Article

Language:

  • English

Gene Symbol:

  • DA-1

Registry Numbers:

  • 0 (Genetic Markers)

[back to list


J Med Genet 1994 Jul;31(7):521-7
NLM CIT. ID: 95055600

Lethal congenital contracture syndrome: further delineation and genetic aspects.

Vuopala K; Herva R

Department of Pathology, University of Oulu, Finland.

In a national morphology based study of lethal arthrogryposis between 1979 and 1992, 40 fetuses and infants with lethal congenital contracture syndrome (LCCS, McKusick 253310) were found in Finland. The incidence of LCCS in Finland was 1:19,000 births. There were 20 affected males and 20 affected females in 26 families. In 16 cases the pregnancy was terminated after the prenatal diagnosis of total akinesia and fetal hydrops on ultrasound. There were 19 stillborn infants and five were born showing signs of life, but died within one hour. The segregation analyses yielded 0.45 affected by the "singles" method and 0.34 by the "sib" method. The birthplaces of the grandparents were located in the sparsely populated north east of Finland. This finding supports the existence of an autosomal recessive LCCS gene in Finland, particularly in the north eastern part.

Publication Types:

  • Journal Article

Language:

  • English

[back to list


Childs Nerv Syst 1994 Jul;10(5):347-9
NLM CIT. ID: 95042419

Familial infantile myasthenia: a neuromuscular cause of respiratory failure.

Zammarchi E; Donati MA; Masi S; Sarti A; Castelli S

Department of Paediatrics, University of Florence, Italy.

Acute respiratory failure can be the product of any of a great number of muscular, neuromuscular, and neurologic causes. The family history may be extremely helpful in narrowing the differential diagnosis. We report the case of a girl who, during the course of a slight upper respiratory infection, presented with acute respiratory failure requiring mechanical ventilation. The family history was significant for a brother who had arthrogryposis and died at 15 h of life, also from respiratory failure. The patient herself had a history of palpebral ptosis in the evening. The absence of electromyographic and muscle biopsy abnormalities and the patient's positive response to anticholinesterase therapy supported the diagnosis of familial infantile myasthenia. We emphasize the importance of considering the myasthenic syndromes in the differential diagnosis of acute respiratory failure, since appropriate therapy can rapidly resolve the symptoms. Furthermore, an accurate diagnosis allows appropriate genetic counseling for the hereditary forms.

Publication Types:

  • Journal Article

Language:

  • English

Registry Numbers:

  • 0 (Delayed-Action Preparations)
    101-26-8 (Pyridostigmine Bromide)

[back to list


Arch Orthop Trauma Surg 1994;113(5):248-53
NLM CIT. ID: 95033747

Early surgical treatment for congenital vertical talus.

Wirth T; Schuler P; Griss P

Klinik fur Orthopadie, Klinikum Lahnberge, Marburg, Germany.

Congenital vertical talus is characterised by a dislocated talonavicular joint in association with an equinus position of the calcaneus. We report the results in 13 operated feet in 10 children, 3 of whom (5 feet) presented with a primary neurological disorder and 2 of whom (3 feet) suffered from arthrogryposis multiplex congenita. The other children were normal. All patients were surgically treated by a one-stage procedure which included reduction of the talonavicular joint and correction of the hindfoot equinus, trying to avoid tendon lengthenings and transfers. The age at operation was between the 3rd and the 6th month of life, with one child being operated on later due to other reasons. The patients were reviewed after an average time of 3.5 +/- 2.2 years. The clinical results were good or excellent in ten feet. Two feet showed partial or complete recurrence and one foot was slightly over-corrected. Radiographic angle measurements (talo-metatarsal I angle and talocalcaneal angle on the anteroposterior radiograph; talocalcaneal, tibiotalar and tibiocalcaneal angles on the lateral radiograph) returned to normal values in the ten good or excellent feet. Early operative treatment for congenital pes vertical talus leads to very satisfactory functional and cosmetic results, usually avoiding extensive procedures including tendon lengthenings and tendon transfers.

Publication Types:

  • Journal Article

Language:

  • English

[back to list


Singapore Med J 1994 Apr;35(2):208-10
NLM CIT. ID: 95026093

Multiple pterygium syndrome (Escobar syndrome)--a case report.

Goh A; Lim KW; Rajalingam V

Department of Paediatrics, Tan Tock Seng Hospital, Singapore.

A 4-year-old boy with Escobar Syndrome, a rare syndrome of sporadic or autosomal recessive inheritance is described. The main features include small stature, multiple pterygia of the neck, axilla, antecubital area, a typical facies and limb abnormalities with normal intelligence.

Publication Types:

  • Journal Article

Language:

  • English

[back to list


Pediatrics 1994 Nov;94(5):682-6
NLM CIT. ID: 95022918

An approach to ventilator-dependent neonates with arthrogryposis.

Bianchi DW; Van Marter LJ

Joint Program in Neonatology,
Harvard Medical School,
Boston, MA 02115.

OBJECTIVE. To identify the clinical factors and/or test results necessary to determine the diagnosis and prognosis for a group of neonates who presented with respiratory insufficiency and multiple contractures.
METHODS. We performed a retrospective review of medical records and identified 15 newborns over a 10-year period (1980 through 1990) who had arthrogryposis multiplex congenita and required ventilator support at birth. We designed a 104 item data base to record clinical information; this was subsequently analyzed using the Clinfo data base program for statistical analysis.
RESULTS. Fourteen of the 15 patients died. Of the fourteen, 13 were electively extubated after a variable time course (2 hours to 64 days). Autopsies performed on all 14 revealed an approximately equal distribution of central nervous system (CNS) malformations, peripheral neuropathies, and peripheral myopathies as the etiology. The single survivor had myasthenia gravis.
CONCLUSION. In neonates with arthrogryposis, ventilator dependence at birth carries a poor prognosis. Prenatal factors that potentially predict respiratory insufficiency for
the fetus with arthrogryposis include decreased fetal movements, polyhydramnios, micrognathia, and thin ribs. The combination of a thorough physical examination and radiographic and neuromuscular studies may not result in a specific diagnosis, but it can
indicate whether the abnormality is in the CNS, peripheral nerves or muscles. Before elective withdrawal of ventilatory support, an edrophonium chloride challenge test should be performed to rule out myasthenia gravis.

Publication Types:

  • Journal Article

Language:

  • English

[back to list


Aust N Z J Ophthalmol 1994 May;22(2):127-32
NLM CIT. ID: 95000633

Arthrogryposis multiplex congenita: a report of two cases.

Brooks JG Jr; Coster DJ
:
Department of Ophthalmology,
Flinders Medical Centre,
Bedford Park, South Australia.

Arthrogryposis multiplex congenita refers to a group of birth defects characterised by multiple joint contractures. The syndrome is caused by neuropathic disease, myopathic disease, or any other cause of decreased fetal joint mobility. Multiple and usually symmetric joint abnormalities with associated muscular and soft tissue hypoplasia are noted at birth. A variety of associated congenital anomalies affecting many organ systems are frequently found. Ocular and orbital findings have been described in patients with arthrogryposis but corneal disease has only rarely been reported. We present corneal findings in two patients with arthrogryposis and discuss the implications for disease pathogenesis. Previous ophthalmologic reports are also reviewed.

Publication Types:

  • Journal Article

Language:

  • English

[back to list


Clin Genet 1994 Jan;45(1):11-6
NLM CIT. ID: 94199859

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions.

Gerdes AM; Petersen MB; Schroder HD; Wulff K; Brondum-Nielsen K

Department of Clinical Chemistry,
Odense University Hospital,
Denmark.

A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the clinically healthy mother, who nevertheless showed discrete signs of myopathy, was demonstrated. DNA analysis excluded maternal uniparental disomy for loci on both chromosomes 10 and 17. We suggest that the translocation breakpoints are candidate regions for a myopathy gene.

Publication Types:

  • Journal Article

Language:

  • English

[back to list]


Ann Otol Rhinol Laryngol 1994 Sep;103(9):729-31
NLM CIT. ID: 94368005

Middle ear deformity in arthrogryposis multiplex congenita.

Quinn SJ; Bleach NR; Richards AE

ENT Department, Charing Cross Hospital, London, England.

Arthrogryposis multiplex congenita (AMC) is a rare congenital syndrome consisting of two or more joint contractures in different parts of the body. Otolaryngological abnormalities have been previously described in a significant proportion of cases. However, to date, the only frequent otologic deformity recorded in the published literature has been low-set ears. We present a case with a combination of AMC and a bilateral conductive hearing loss due to an unusual middle ear deformity. To our knowledge, no such case has been previously reported.

Publication Types:

  • Journal Article

Language:

  • English

[back to list]


Teratology 1994 Apr;49(4):306-10
NLM CIT. ID: 94353331

Effect of coniine on the developing chick embryo.

Forsyth CS; Frank AA; Watrous BJ; Bohn AA

Interdisciplinary Toxicology Program,
Oregon State University,
Corvallis 97331.

Coniine, an alkaloid from Conium maculatum (poison hemlock), has been shown to be teratogenic in livestock. The major teratogenic outcome is arthrogryposis, presumably due to nicotinic receptor blockade. However, coniine has failed to produce arthrogryposis in rats or mice and is only weakly teratogenic in rabbits. The purpose of this study was to evaluate and compare the effects of coniine and nicotine in the developing chick. Concentrations of coniine and nicotine sulfate were 0.015%, 0.03%, 0.075%, 0.15%, 0.75%, 1.5%, 3%, and 6% and 1%, 5%, and 10%, respectively. Both compounds caused deformations and lethality in a dose-dependent manner. All concentrations of nicotine sulfate caused some lethality but a no effect level for coniine lethality was 0.75%. The deformations caused by both coniine and nicotine sulfate were
excessive flexion or extension of one or more toes. No histopathological alterations or differences in bone formation were seen in the limbs or toes of any chicks from any group; however, extensive cranial hemorrhage occurred in all nicotine sulfate-treated chicks. There was a statistically significant (P < or = 0.01) decrease in movement in coniine and nicotine sulfate treated chicks as determined by ultrasound. Control chicks were in motion an average of 33.67% of the time, while coniine-treated chicks were only moving 8.95% of a 5-min interval, and no movement was observed for nicotine sulfate treated chicks. In summary, the chick embryo provides a reliable and simple experimental animal model of coniine-induced arthrogryposis. Data from this model support a mechanism involving nicotinic receptor blockade with subsequent decreased fetal movement.

Publication Types:

  • Journal Article

Language:

  • English

Registry Numbers:

  • 0 (Alkaloids)
  • 0 (Teratogens)
  • 10388-95-1 (coniine)
  • 54-11-5 (Nicotine)

 

[back to list]


J Inherit Metab Dis 1994;17(1):153-5
NLM CIT. ID: 94328596

Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.

Shin YS; Plochl E; Podskarbi T; Muss W; Pilz P; Puttinger R

Children's Hospital, University of Munich, Germany.

Publication Types:

  • Journal Article

Language:

  • English

Registry Numbers:

  • EC 2.7.1.38 (Phosphorylase Kinase)

[back to list]


Acta Orthop Scand 1994 Jun;65(3):349-50
NLM CIT. ID: 94317516

Talectomy for osteoporotic and neuropathic feet. 7 cases followed for 2-3 years.

Gunal I

University of Anadolu,
School of Medicine,
Department of Orthopedics,
Eskisehir, Turkey.

I modified a technique of talectomy reported previously for osteoporotic cases. A larger medial malleolar fragment is displaced laterally to prevent the bone from being splintered during fixation. 2 Hawkins Group III fracture-dislocations of the talus and 4 equinovarus feet were successfully treated by this technique.

Publication Types:

  • Journal Article

Language:

  • English

[back to list]


Can J Cardiol 1994 Jun;10(5):548-50
NLM CIT. ID: 94282665

Ambulatory monitoring of the sudden death of an adolescent with hypertrophic cardiomyopathy.

Gardin LL; Nanton MA; Hanna BD

Faculty of Medicine,
Department of Physiology and Biophysics,
Dalhousie University.

Sudden death is an important cause of mortality in hypertrophic cardiomyopathy. Several mechanisms have been proposed, but ambulatory monitoring of the event has rarely occurred. The case of an adolescent girl with congenital hypertrophic cardiomyopathy and arthrogryposis multiplex congenita is presented. Despite appropriate therapy and severe activity limitation, the patient's condition progressively worsened. The patient died suddenly in her sleep, one month after a myocardial myomectomy for subaortic stenosis. The fortuitous ambulatory electrocardiographic (ECG) monitoring of the event recorded polymorphic ventricular tachycardia degrading into ventricular fibrillation. Retrospective review of previous ambulatory ECG revealed the presence of nonsustained ventricular tachycardia, a predictive determinant for sudden death, and atrioventricular node dysfunction. However, the patient had never reported symptoms during the dysrhythmias. The pathological specimen showed an unexpected old apical infarction scar, suggesting that her preoperative cardiac status was worse than suspected. In summary, the mechanism of sudden death in this patient was revealed by ambulatory ECG monitoring, and the involvement of neural and myocardial factors are proposed.

Publication Types:

  • Journal Article

Language:

  • English

[back to list]


Pediatr Pathol 1994 Mar-Apr;14(2):277-85
NLM CIT. ID: 94277919

Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature.

Sombekke BH; Molenaar WM; van Essen AJ; Schoots CJ

Department of Pathology,
University of Groningen,
The Netherlands.

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.

Publication Types:

  • Journal Article

Language:

  • English

[back to list]


Neuropediatrics 1994 Feb;25(1):48-50
NLM CIT. ID: 94268631

Congenital muscular dystrophy with distinct CNS involvement.

Olive M; Sirvent J; Ferrer I

Unidad de Neuropatologia, Hospital Principes de Espana,
Universidad de Barcelona, Spain.

The sixth child of non-consanguineous parents, who had suffered from severe arthrogryposis syndrome and microcephalia, died at the age of two days. Post-mortem study revealed unique morphological brain anomalies characterized by severe cerebral and cerebellar atrophy, focal cerebral mycrogiria and ectopic masses of immature cells in the periventricular region and cerebral white matter; pachygyria was absent. In addition,
muscular examination was consistent with severe muscular dystrophy. These findings suggest that new forms of combined cerebral abnormalities and muscular dystrophy of congenital origin can be recognized in isolated cases.

Publication Types:

  • Journal Article

Language:

  • English

[back to list]


Surv Ophthalmol 1994 Jan-Feb;38(4):395-6
NLM CIT. ID: 94212279

Duane's retraction syndrome and arthrogryposis multiplex congenita [letter; comment]

Miller BA; Pollard ZF

COMMENT:
Surv Ophthalmol 1993 Nov-Dec;38(3):257-88

Publication Types:

  • Comment
  • Letter

Language:

  • English

[back to list]


J Med Genet 1994 Jan;31(1):62-4
NLM CIT. ID: 94202144

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review [see comments]

Horslen SP; Quarrell OW; Tanner MS

Department of Paediatrics, Sheffield Children's Hospital, UK.

COMMENT:
J Med Genet 1994 Oct;31(10):820

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome.

Publication Types:

  • Journal Article
  • Review
  • Review of Reported Cases

Language:

  • English

[back to list]


Muscle Nerve 1994 Feb;17(2):192-7
NLM CIT. ID: 94158935

Dominant congenital benign spinal muscular atrophy.

Frijns CJ; Van Deutekom J; Frants RR; Jennekens FG

Department of Neurology,
St. Lucas Hospital, Amsterdam,
The Netherlands.

The affected members of the family described in this article exhibit congenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings support a dominant lower motor neuron disorder. DNA analysis excluded linkage of the disease with SMA markers on the long arm of chromosome 5. The condition must be differentiated from congenital and infantile SMA, from "arthrogryposis multiplex congenita, distal type," and from non hereditary types of congenital arthrogryposis.

Publication Types:

  • Journal Article

Language:

  • English

Registry Numbers

  • 9007-49-2 (DNA)

[back to list]


08829449 94144449
Acta Vet Scand (DENMARK) 1993, 34 (3) p245- 53, ISSN 0044- 605X Journal Code: 27V

Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989- 1991.

Agerholm JS; Basse A; Christensen K

Department of Pathology and Epidemiology,
Royal Veterinary and Agricultural University,
Frederiksberg, Denmark.

The methods of the Danish Bovine Genetic Disease Programme are outlined, and the results obtained during the first 3 years in function are described. The most common disease reported was spinal muscular atrophy in calves of the Red Danish Dairy breed with 312 reports. Necropsy was performed on 162 cases, and spinal muscular atrophy was diagnosed in 82 of these. Bovine progressive degenerative myeloencephalopathy, rectovaginal constriction, syndrome of arthrogryposis and palatoschisis, hereditary chondrodysplasia (2 different types), syndactylism, epitheliogenesis imperfecta, and osteogenesis imperfecta was diagnosed with 1 case each. Lethal trait A46 was diagnosed in 4 calves. Some of these diseases have not previously been described in Denmark, and epitheliogenesis imperfecta was for the first time diagnosed in the Hereford breed. Chromosome translocation 1/29 was detected in the Blonde d'Aquitaine (BAQ), Limousine, and Red Danish Dairy breed. The aberration occurred frequently in BAQ. Furthermore, a complex chromosome translocation t(1;8;9)(q45;q13;q26) was detected in the Red Danish Dairy breed.

[back to list]


08823515 94138515
Clin Dysmorphol (ENGLAND) Oct 1993, 2 (4) p365- 8, ISSN 0962- 8827 Journal Code: BYD

An additional case of pachygyria, joint contractures and facial abnormalities.

Levin ML; Lupski JR; Carpenter RJ Jr; Gerson LP; Greenberg F

Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.

Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another report describes a non-lethal case in which dysmorphic features were not noted (Massa et al., 1988). We now report on what appears to be an additional lethal case. This male infant had a lethal condition with features of large fontanelle, pachygyria with incomplete opercularization, varus contractures of the hands and feet, small palpebral fissures, hypertelorism, a small penis, cryptorchidism, camptodactyly and a sandal gap deformity. These cases appear to represent a new lethal lissencephaly syndrome associated with arthrogryposis and facial dysmorphism, which we propose to call the Winter-Tsukahara syndrome. (3 Refs.)

[back to list]


08806728 94121728
Pediatr Neurol (UNITED STATES) Sep-Oct 1993, 9 (5) p343- 8, ISSN 0887- 8994 Journal Code: AA5

Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings.

Fedrizzi E; Botteon G; Inverno M; Ciceri E; D'Incerti L; Dworzak F

Department of Developmental Neurology,
National Neurological Institute C. Besta, Milan, Italy.

A clinical and magnetic resonance imaging (MRI) study on a selected group of 11 children, with a diagnosis of neurogenic arthrogryposis multiplex congenita (AMC) based on clinical, electromyographic, and muscle biopsy findings, is presented to determine the extent of central nervous system involvement in AMC. Family history, pregnancy, perinatal problems, other abnormalities, and epileptic seizures were reviewed. Neurologic examination, electroencephalography, intellectual assessment, and MRI study both of spinal cord and brain were performed. The clinical and laboratory findings disclosed evidence of spinal cord lesions with involvement of anterior horn cell function in all patients, and impairment of cerebral function in 5 patients. MRI revealed spinal cord atrophy in 3 patients, diffuse atrophy in 2 patients, and involved thoraco-lumbar segments in 1 patient. Cranial MRI studies demonstrated features of developmental brain abnormalities in 3 patients, cortical frontal atrophy in 2, and was normal in 4. In neurogenic AMC patients, MRI examination of the spinal cord and brain may help to clarify the pathogenesis of the disease and is helpful for prognostic and therapeutic purposes.

[back to list]


08778314 94093314
Neuromuscul Disord (ENGLAND) Jul 1993, 3 (4) p335- 9, ISSN 0960- 8966 Journal Code: BJS

Arthrogryposis multiplex in a newborn of a myasthenic mother--case report and literature.

Dinger J; Prager B

Clinic of Paediatrics, Medical Academy of Dresden, Germany.

About 12% of children of myasthenic mothers exhibit a transitory myasthenic syndrome. Usually, these symptoms have disappeared after a few weeks. Treatment with anticholinesterase drugs is successful. The purpose of this paper is to present an infant born to a myasthenic mother, with distal arthrogryposis, severe hypotonia and respiratory distress, unresponsive to administration of pyridostigmine bromide. Eleven other cases of neonatal myasthenia with arthrogryposis are known. Five of them were stillborn or died within the first day of life. The surviving children had profound weakness and needed ventilatory assistance for a long period. The severity of these few cases contrasts with the numerous reports of benign and transitory signs of neonatal myasthenia. Passively transferred maternal acetylcholine receptor antibodies may produce illness in the newborn. (18 Refs.)

[back to list]


08753237 94068237
Pediatr Pathol (UNITED STATES) Sep-Oct 1993, 13 (5) p685- 98, ISSN 0277- 0938 Journal Code: PEE

A congenital variant of glycogenosis type IV.

van Noort G; Straks W; Van Diggelen OP; Hennekam RC

Streeklaboratorium voor Pathologie, Enschede, The Netherlands.

Three related patients are described with glycogenosis type IV with an unusual clinical presentation resulting in perinatal death. Stored material showed birefringent Maltese crosses and was present in skeletal muscles, heart, central nervous system, and liver. Muscular dysfunction resulted in a fetal hypokinesia sequence with arthrogryposis and lung hypoplasia. A subdivision of glycogenosis type IV in four subtypes is proposed, based on age of onset. Measurement of the enzyme activities in different tissues does not permit, at the moment, a distinction between the subtypes.

[back to list]


08749878 94064878
J Pediatr Orthop (UNITED STATES) Nov-Dec 1993, 13 (6) p744- 8, ISSN 0271- 6798 Journal Code: HSW

Soft-tissue expander failure in severe equinovarus foot deformity.

Bassett GS; Mazur KU; Sloan GM

Department of Orthopaedics, USC School of Medicine.

Soft-tissue expanders have recently been reported to be useful in clubfoot surgery. We report our experience with this procedure in five patients with seven severe equinovarus foot deformities. The primary diagnoses of these patients included distal arthrogryposis, cerebro-oculo-facial syndrome, ischemic contracture and spina bifida. Our patients' major complications included ischemia, infection, and sepsis, which resulted in premature removal of the soft-tissue expanders in five of seven clubfeet. Minor complications, such as partial wound dehiscence, occurred in the two successful expansions. Predisposing factors may include soft-tissue expanders with self-contained ports, poor compliance, and extremely tight tissues that limit the subcutaneous space available for expansion, with resultant diminution of the vascular supply to the overlying skin.

[back to list]


08749715 94064715
J Bone Joint Surg Am (UNITED STATES) Nov 1993, 75 (11) p1699- 714,
ISSN 0021- 9355 Journal Code: HJR
(92 Refs.)

The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis.

Shapiro F; Specht L

Department of Orthopaedic Surgery,
Children's Hospital,
Harvard Medical School,
Boston, Massachusetts 02115.

Tags: Human
Descriptors: *Arthrogryposis--Surgery--SU; *Friedreich's Ataxia--Surgery --SU; *Muscular Atrophy, Spinal--Surgery--SU; *Peripheral Nervous System Diseases--Surgery--SU; Adolescence; Adult; Arthrogryposis--Diagnosis--DI; Child; Child, Preschool; Friedreich's Ataxia--Diagnosis--DI; Muscular Atrophy, Spinal--Diagnosis--DI; Neuropathies, Hereditary Motor and Sensory --Diagnosis--DI; Neuropathies, Hereditary Motor and Sensory--Surgery--SU; Orthopedics--Methods--MT; Peripheral Nervous System Diseases--Diagnosis--DI ; Spinal Fusion

[back to list]


08712166 94027166
Am J Med Genet (UNITED STATES) Aug 15 1993, 47 (2) p278- 80, ISSN 0148- 7299 Journal Code: 3L4

Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.

Richieri-Costa A; Guion-Almeida ML; Cohen MM Jr

Servico de Genetica Dlinica,
Hospital de Pesquisa e Reabilitacao de Lesoes Labio-Palatais,
Universidade de Sao Paulo, Bauru, Brazil.

We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.

[back to list]


08712159 94027159
Am J Med Genet (UNITED STATES) Aug 15 1993, 47 (2) p246- 9, ISSN 0148- 7299 Journal Code: 3L4

Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome.

Johnston K; Aarons R; Schelley S; Horoupian D

Department of Pediatrics, Stanford University Medical Center, California.

We report on 2 brothers with arthrogryposis, hyperkeratosis, and severe hypoplasia of dorsal roots and posterior columns in the one sib who was examined at autopsy. This appears to represent a new arthrogryposis syndrome with poor prognosis, most likely inherited as a single gene, either autosomal or X-linked recessive trait.

[back to list]


08692222 94007222
Clin Genet (DENMARK) Jul 1993, 44 (1) p1- 7, ISSN 0009- 9163 Journal Code: DDT

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome.

Rizzo R; Pavone L; Micali G; Hall JG

Pediatric Clinic, Catania University, Italy.

A family in whom several members are affected with nail-patella dysplasia is reported because of severe renal involvement and bilateral antecubital pterygia. The family presented as arthrogryposis because of the elbow contractures. (87 Refs.)

Tags: Case Report; Female; Human; Male

[back to list]


08673688 93383688
Acta Paediatr Sin (TAIWAN) Mar-Apr 1993, 34 (2) p132- 6, ISSN 0001- 6578 Journal Code: 1M6

Arthrogryposis multiplex congenita: report of a case of amyoplasia.

Yang MT; Chen CH; Mak SC; Wu KH; Chi CS

Department of Pediatrics, Taichung Veterans General Hospital, Taipei, R.O.C.

Arthrogryposis multiplex congenita is a congenital syndrome characterized by multiple congenital joint contractures; and refers to a large heterogeneous group of disorders. We present a 40 days old male baby who has had multiple fixed contractures of joints since birth. Midline capillary hemangioma, internal rotation of bilateral shoulders, extension contracture of elbows, flexed wrists with pronation deformity, flexion and internal rotation of hips, equinovarus of feet were noted. A series of examinations for differential diagnosis including brain sonogram, echocardiogram, muscle echogram, muscle biopsy, chromosome study were performed and all showed normal findings. Amyoplasia was impressed. Early rehabilitation was arranged. Normal intelligence and a normal life span are expected.

[back to list]


08670152 93380152
Clin Genet (DENMARK) Jun 1993, 43 (6) p300- 2, ISSN 0009- 9163 Journal Code: DDT

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

Ioan DM; Belengeanu V; Maximilian C; Fryns JP

Department of Clinical Genetics, Institute of Endocrinology GJ Parhon, Bucharest.

A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).

[back to list]


08667715 93377715
Am J Med Genet (UNITED STATES) Aug 1 1993, 47 (1) p45- 9, ISSN 0148- 7299 Journal Code: 3L4

Lethal multiple pterygium syndrome: report of a case with neurological anomalies.

Spearritt DJ; Tannenberg AE; Payton DJ

Department of Tissue Pathology, Mater Misericordiae Hospital, Brisbane, Australia.

We report on a 22-week female fetus with multiple pterygia, congenital joint contractures, muscle hypoplasia, cystic hygroma, hydrops, pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation. Examination also documented microcephaly, brain immaturity, and severe cerebellar and pontine hypoplasia with absence of the pyramidal tracts. The spinal cord showed a marked decrease in size of all white matter tracts. The muscles were markedly hypoplastic. The relation of the neurological findings to the development of the syndrome is discussed.

[back to list]


08667712 93377712
Am J Med Genet (UNITED STATES) Aug 1 1993, 47 (1) p31- 6, ISSN 0148- 7299 Journal Code: 3L4

Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.

Frydman M; Jager-Roman E;
de Vries L; Stoltenburg-Didinger G; Nussinovitch M; Sirota L

Genetics Clinic, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel.

We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

[back to list]


08667699 93377699
Am J Med Genet (UNITED STATES) Aug 1 1993, 47 (1) p106- 11, ISSN 0148- 7299 Journal Code: 3L4

Multiple pterygium syndrome with body asymmetry.

Willems PJ; Colpaert C; Vaerenbergh M; Van Thienen MN;
Parizel PM; Van Marck E; Schuerwegh WH; Martin JJ

Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.

We report on a fetus with multiple pterygia in the popliteal, antecubital, intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly, anal atresia, hypospadias, ambiguous genitalia, and neonatal death. Arthrogryposis was much more pronounced at the left than at the right side. Moreover, there was gross body asymmetry with hypoplasia of the left arm, leg, pelvis, and kidney. As this spectrum of anomalies does not fit any of the known multiple pterygium syndromes, this patient adds another clinical entity to the already wide spectrum of multiple pterygium syndromes.

[back to list]


08662815 93372815
Hum Mol Genet (ENGLAND) Jul 1993, 2 (7) p1067- 8, ISSN 0964- 6906 Journal Code: BRC

A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Cheadle JP; al-Jader LN; Meredith AL

Institute of Medical Genetics,
University of Wales College of Medicine,
Heath Park, Cardiff, UK.

Tags: Case Report; Female; Human; Support, Non-U.S. Gov't
Descriptors: *Cystic Fibrosis--Genetics--GE; *Membrane Proteins--Genetics --GE; *Point Mutation; Adult; Arthrogryposis--Complications--CO; Cystic Fibrosis--Complications--CO; DNA--Genetics--GE; Exons
CAS Registry No.: 0 (Membrane Proteins); 126880- 72- 6 (cystic fibrosis transmembrane conductance regulator); 9007- 49- 2 (DNA)
Gene Symbol: CFTR

[back to list]


08660444 93370444
Am J Med Genet (UNITED STATES) Jan 1 1992, 42 (1) p140, ISSN 0148- 7299 Journal Code: 3L4

Arthrogryposis multiplex congenita with renal and hepatic abnormalities [letter]

Saraiva JM; Lemos C; Goncalves I; Mota HC; Carneiro F

Tags: Case Report; Female; Human; Male
Descriptors: *Abnormalities, Multiple--Genetics--GE; *Arthrogryposis --Genetics--GE; Arthrogryposis--Pathology--PA; Genes, Recessive; Infant, Newborn; Kidney--Abnormalities--AB; Liver--Abnormalities--AB

[back to list]


08653782 93363782
J Vet Med Sci (JAPAN) Jun 1993, 55 (3) p515- 7, ISSN 0916- 7250 Journal Code: A27

Hydranencephaly in newborn calves in Zambia.

Schneebeli M; Inoue S; Madarame H

Galaunia Farms Ltd., University of Zambia, Lusaka.

Hydranencephaly without arthrogryposis was observed in three newborn Holstein-Friesian calves, born during one week in a 400-cow dairy herd in Zambia. The affected calves were blind and exhibited nystagmus and depressed behavior. Akabane virus infection was suspected based on the pathological findings and etiological data, however, we could not determine the exact causative agent.

[back to list]


08645429 93355429
Teratology (UNITED STATES) Jul 1993, 48 (1) p59- 64, ISSN 0040- 3709 Journal Code: VM8

Evaluation of developmental toxicity of coniine to rats and rabbits.

Forsyth CS; Frank AA

Interdisciplinary Toxicology Program, Oregon State University, Corvallis 97331.

Conium maculatum (poison hemlock, CM) is teratogenic in several domestic species, presumably due to its piperidine alkaloids, including coniine, which has been verified to be teratogenic in cattle. Coniine/CM teratogenicity culminates in production of arthrogryposis. The purpose of this study was to evaluate coniine-induced teratogenicity in two laboratory animal species, Sprague-Dawley rats and New Zealand white rabbits. Pregnant rats were given coniine (25 mg/kg body weight) by oral gavage at 8-hour intervals on gestation days 16- 18. Pregnant rabbits were given coniine (40 mg/kg body weight) by oral gavage at 8-hour intervals on gestation days 20- 24. Rats were killed on day 19 and rabbits on day 29. Fetuses were immediately removed, weighed, and examined for external abnormalities. Alternate fetuses were either stained for skeletal examinations with alizarin red-S or fixed in Bouin's solution for visceral examination. Symptoms of maternal intoxication due to coniine administration were observed in both the rat and the rabbit, and higher doses were uniformly lethal. Rabbits treated with coniine appeared to lose more weight and eat less than controls, but there was no statistically significant difference between groups. Fetal weights were significantly lower in coniine-exposed rat and rabbit fetuses indicating fetotoxicity. The only statistically significant treatment-related visceral or skeletal malformation was a reduction of cranial ossification of rabbit fetuses, probably related to maternal toxicity. Coniine-exposed rabbit litters tended to be affected by arthrogryposis (no bony deformities noted on skeletal exam) more than controls (2/6 vs. 0/9).

[back to list]


08644622 93354622
Mil Med (UNITED STATES) Jul 1993, 158 (7) p498- 9, ISSN 0026- 4075 Journal Code: N1A

Antepartum diagnosis of arthrogryposis associated with trisomy 18.

Kopelman JN

Department of Obstetrics and Gynecology,
Madigan Army Medical Center,
Tacoma, WA 98431- 5418.

The discovery of a fetal abnormality during ultrasonography is a widely acknowledged indication for genetic amniocentesis. We present a case in which the early diagnosis of severe arthrogryposis led to the diagnosis of trisomy 18.

[back to list]


08636852 93346852
J Hand Surg [Br] (SCOTLAND) Jun 1993, 18 (3) p304- 7, ISSN 0266- 7681 Journal Code: IRE

Early corrective surgery of the wrist and elbow in arthrogryposis multiplex congenita.

Mennen U

An early one-stage corrective surgical procedure for the elbow and wrist of patients suffering from arthrogryposis multiplex congenita is advocated. The procedure involves adequate proximal row carpectomy, tendon transfers to achieve a balanced wrist and a triceps to radius transfer for elbow flexion. Experience with 47 limbs showed that the best results were obtained in children operated on between 3 and 6 months of age.

[back to list]


08631980 93341980
Prenat Diagn (ENGLAND) May 1993, 13 (5) p411- 6, ISSN 0197- 3851 Journal Code: PJ7

Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia.

Gullino E; Abrate M; Zerbino E; Bricchi G; Rattazzi PD

Department of Genetics, Hospital USSL 61, Savigliano (Cuneo), Italy.

A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19-week-old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder of the motor neurons of the anterior medullary horn revealed a neuropathic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo-pathological, genetic, and differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case.

[back to list]


08601217 93311217

Acta Orthop Scand (DENMARK) Jun 1993, 64 (3) p357- 61, ISSN 0001- 6470 Journal Code: 1GO

Muscle ultrasonography in arthrogryposis. Comparison with clinical, neuromyographic and histologic findings in 41 cases.

Sodergard JM; Jaaskelainen JJ; Ryoppy SA

Department of Surgery and Orthopedics,
Children's Hospital,
Helsinki University Hospital,
Finland.

We studied the ultrasonographic appearance of muscles in 41 patients with arthrogryposis multiplex congenita (AMC). The observations were compared to the findings in clinical testing, electroneuromyography, and histological examination. The strength of the muscles in AMC-patients did not always correspond to the ultrasonographic morphology of the muscles. In extension contractures of the elbow and in equinovarus adductus deformities of the foot there was a distribution of pathological changes in the muscles corresponding to the primary deformity. The sound transfer through the muscles was decreased, notably in the neurogenic form of AMC. Ultrasonography is an important complement to the clinical examination and it should always be done prior to surgery and muscle biopsy.

Languages:

  • English

[back to list]


08549529 93259529
Foot Ankle (UNITED STATES) Mar-Apr 1993, 14 (3) p117- 22, ISSN 0198- 0211 Journal Code: F3X

Use of tissue expansion in clubfoot surgery.

Silver L; Grant AD; Atar D; Lehman WB

Beth Israel Medical Center, New York, New York.

Tissue expansion was used successfully to prepare adequate soft tissue for closure following a difficult clubfoot correction. The gradual expansion was done weekly at the outpatient clinics (average 3- 4 months). The procedure proved to be useful in severe cases of clubfoot.

[back to list]


08536791 93246791
J Neurol Neurosurg Psychiatry (ENGLAND) Apr 1993, 56 (4) p365- 8, ISSN 0022- 3050 Journal Code: JBB

Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

Hageman G; Ramaekers VT; Hilhorst BG; Rozeboom AR

Department of Neurology,
Medical Spectrum Twente Hospital Enschede,
The Netherlands.

Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs

[back to list]


08498680 93208680
Vet Clin North Am Food Anim Pract (UNITED STATES) Mar 1993, 9 (1) p93- 104, ISSN 0749- 0720 Journal Code: CFP

Congenital defects of the bovine musculoskeletal system and joints.

Leipold HW; Hiraga T; Dennis SM

Department of Pathology,
Kansas State University College of Veterinary Medicine, Manhattan.

A variety of structural and functional congenital defects affecting the central nervous system of cattle have been identified. This article discusses specific defects of the central nervous system. Spastic and paralytic, metabolic, and storage diseases are reviewed. (68 Refs.)

[back to list]


08498675 93208675
Vet Clin North Am Food Anim Pract (UNITED STATES) Mar 1993, 9 (1) p33- 40, ISSN 0749- 0720 Journal Code: CFP

Quinolizidine and piperidine alkaloid teratogens from poisonous plants and their mechanism of action in animals.

Panter KE; Keeler RF

United States Department of Agriculture,
Poisonous Plant Research Laboratory,
Logan, Utah.

Quinolizidine and piperidine alkaloid teratogens from Lupinus, Conium, and Nicotiana genera have been identified as causes of birth defects in livestock induced by poisonous plants. Many defects now known to be related to poisonous plant ingestion were once thought to have a genetic origin. This supposition delayed diagnosis, reporting, and understanding of such birth defects, because breeders and producers feared the news would make it difficult to sell breeding stock. Defects caused by quinolizidine and piperidine teratogens include cleft palate and contracture-type skeletal defects such as arthrogryposis, scoliosis, torticollis, and kyphosis. Teratogens have been identified, differences in susceptibility to teratogenic compounds among livestock species have been elucidated, periods of gestation when specific types of birth defects occur have been determined, and information about mechanism of action has been developed. (38 Refs.)

[back to list]


08497479 93207479
Aust Vet J (AUSTRALIA) Feb 1993, 70 (2) p56- 8, ISSN 0005- 0423 Journal Code: 9IE

An outbreak of Akabane virus-induced abnormalities in calves after agistment in an endemic region.

Jagoe S; Kirkland PD; Harper PA

Rural Lands Protection Board, Bega, New South Wales.

During 1988, 2 farmers in the Bega district agisted pregnant cattle in the Hunter Valley of New South Wales. On return to the district to calve, 54% of calves from herd 1 and 30% of calves from herd 2 were affected with congenital arthrogryposis or hydranencephaly caused by Akabane virus infection. Field observations and laboratory findings from this outbreak are presented, illustrating the danger of moving immunologically naive animals into areas where Akabane virus is endemic.

[back to list]


08483360 93193360
Clin Orthop (UNITED STATES) Feb 1993, (287) p187- 92, ISSN 0009- 921X Journal Code: DFY

Congenital dislocation of the knee. Its pathologic features and treatment.

Ooishi T; Sugioka Y; Matsumoto S; Fujii T

Department of Orthopaedic Surgery,
Faculty of Medicine, Kyushu University,
Fukuoka, Japan.

Arthrograms and operative findings of 19 patients with 26 congenital dislocations of the knee (CDK) were reviewed to clarify the pathologic features, methods of treatment, and the optimum treatment for the patient with multiple joint deformities. The fundamental pathologic features in CDK involved a shortening of the quadriceps femoris tendon, a tight anterior articular capsule, and hypoplasia of the suprapatellar bursa. Valgus deformity of the knee, which was observed in half of the patients, was caused by the fragility of the medial components of the knee. This fragility was attributable to the forward displacement of the tibial insertion of the medial components. Arthrograms served as effective indicators when evaluating the pathologic features and determining the applicability of surgical therapy. There were limits to conservative therapy that were dependent on the extent of the pathologic changes. In extremely refractory patients with arthrogryposis multiplex congenita (AMC), an elimination of genu recurvatum and an improved range of movement could be obtained by the use of surgery. The valgus deformity was significantly reduced by invasive treatment that reinforced the fragile inner components. Experience with nine patients with multiple lower-limb joint deformities indicates that the knee dislocation should be treated before any of the other deformities.

[back to list]


08475728 93185728
Eur J Pediatr (GERMANY) Feb 1993, 152 (2) p95- 8, ISSN 0340- 6199 Journal Code: END

Restrictive dermopathy: a lethal congenital skin disorder.

Hoffmann R; Lohner M; Bohm N; Leititis J; Helwig H

Institute of Pathology, Paediatric Pathology Section,
Freiburg, Federal Republic of Germany.

Restrictive dermopathy is a recently described lethal congenital disorder of the skin with an autosomal recessive mode of inheritance. The rigidity of the skin impairs fetal movements in utero and causes arthrogryposis, as well as highly characteristic facial features and pulmonary hypoplasia. We report two cases of restrictive dermopathy in prematurely born infants, describe the typical pathological findings and discuss this disorder in the context of the fetal akinesia/hypokinesia deformation sequence.

Languages:

  • English

[back to list]


08467982 93177982
Clin Neuropathol (GERMANY) Jan-Feb 1993, 12 (1) p25- 33, ISSN 0722- 5091 Journal Code: DFM

Arthrogryposis multiplex congenita with posterior column degeneration and peripheral neuropathy: a case report.

Folkerth RD; Guttentag SH; Kupsky WJ; Kinney HC

Department of Pathology, Children's Hospital, Boston, Massachusetts.

Congenital sensory neuropathies associated with arthrogryposis multiplex congenita (AMC) are rare. We report a unique case of a nine-week-old, full-term infant with AMC, congenital sensory neuropathy, and posterior column degeneration. The family history was negative for neuromuscular disease. At birth, the infant was small for gestational age, indicative of intrauterine growth retardation. He was hypotonic and hyporeflexic, and failed to sustain respiration. He remained ventilator-dependent throughout his life. Electrodiagnostic studies indicated widespread peripheral neuropathy. At two weeks of age, biopsied sural nerve was almost completely devoid of myelinated axons; quadriceps skeletal muscle contained only mild and nonspecific abnormalities. Autopsy showed pulmonary hypoplasia. The major nervous system findings were severe, bilateral posterior column degeneration, mild posterior horn gliosis, atrophy of posterior roots, and axonal degeneration of the peripheral nerves. Sensory and autonomic (vagal) nerves were preferentially involved, with relative sparing of motor nerves. This case suggests that interruption of kinesthetic pathways early in gestation may result in fixed joints.

Languages:

  • English

[back to list]


08455602 93165602
Prenat Diagn (ENGLAND) Dec 1992, 12 (12) p1047- 53, ISSN 0197- 3851 Journal Code: PJ7

Prenatal diagnosis of distal arthrogryposis type I by ultrasonography.

Bui TH; Lindholm H; Demir N; Thomassen P

Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' gestation. The diagnoses were verified at birth. The feasibility of prenatal diagnosis of DA type I in the second trimester is thus confirmed and its possibility in the late first trimester is suggested.

[back to list]


08454028 93164028
J Pediatr Ophthalmol Strabismus (UNITED STATES) Nov-Dec 1992, 29 (6) p370- 3, ISSN 0191- 3913 Journal Code: JMI

Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata.

Sullivan TJ; Clarke MP; Heathcote JG; Hunter WS; Rootman DS; Morin JD

Department of Ophthalmology,
Hospital for Sick Children,
Toronto, Ontario, Canada.

Tags: Case Report; Female; Human; Male; Support, Non-U.S. Gov't
Descriptors: *Arthrogryposis; *Choroid--Abnormalities--AB; *Coloboma; *Corneal Diseases; *Iris Diseases; *Retina--Abnormalities--AB; Abnormalities, Multiple; Anterior Chamber; Contracture; Infant, Newborn; Pregnancy

[back to list]


08452737 93162737
Indian Pediatr (INDIA) Oct 1992, 29 (10) p1305- 9, ISSN 0019- 6061 Journal Code: GM2

Lethal multiple pterygium syndrome.

Lakshminarayana P; Jegatheesan T; Venkataraman P

Department of Medical Genetics, Madras Medical College.

Tags: Case Report; Human; Male
Descriptors: *Arthrogryposis; *Pterygium; Arthrogryposis--Diagnosis--DI; Infant; Infant, Newborn; Phenotype; Pterygium--Diagnosis--DI; Syndrome

Languages:

  • English

[back to list]


08432812 93142812
Am J Med Genet (UNITED STATES) Oct 1 1992, 44 (3) p391, ISSN 0148- 7299 Journal Code: 3L4

Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case [letter; comment]

Di Rocco M; Erriu MI; Lignana E

Comment on Am J Med Genet 1991 Mar 15;38(4):557- 61
Tags: Case Report; Human; Male
Descriptors: *Arthrogryposis--Diagnosis--DI; *Pierre Robin Syndrome --Diagnosis--DI; Infant


08430151 93140151
J Med Genet (ENGLAND) Jan 1993, 30 (1) p78- 80, ISSN 0022- 2593 Journal Code: J1F

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

Schrander-Stumpel CT; Howeler CJ; Reekers AD;
De Smet NM; Hall JG; Fryns JP

Department of Clinical Genetics,
Academic Hospital,
Maastricht, The Netherlands.

Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyoplasia, the different types of distal arthrogryposis, and symphalangism is discussed. (9 Refs.)

[back to list]


08420101 93130101
Neuromuscul Disord (ENGLAND) 1992, 2 (4) p277- 83, ISSN 0960- 8966 Journal Code: BJS

A large inbred Palestinian family with two forms of muscular dystrophy.

Mahjneh I; Vannelli G; Bushby K; Marconi GP

Department of Neurological Science, University of Florence, Italy.

This paper reports the results of a clinical, genetic and histopathological study of 19 patients belonging to a large inbred Palestinian family living in Um-El-Fahem, a town located in Israel, which is solely inhabited by Arabs. Their custom of marrying only among relatives has kept the genetic homogeneity of the families intact. There were ten cases of congenital muscular dystrophy (CMD) and nine cases of adult limb-girdle muscular dystrophy (LGMD) belonging to two generations of the same family. Both forms showed autosomal recessive inheritance. The patients with congenital muscular dystrophy had generalized muscular weakness and hypotonia at birth without arthrogryposis or CNS involvement and then had a relatively benign evolution with stabilization of the clinical picture at different ages and variable degree of severity. Muscle biopsy showed a dystrophic pattern. The other nine patients presented with the picture of adult limb-girdle muscular dystrophy but with an unusual tendency to the stabilization of symptoms.

[back to list]


08418325 93128325
Am J Med Genet (UNITED STATES) Dec 1 1992, 44 (6) p757- 61, ISSN 0148- 7299 Journal Code: 3L4

New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.

Middleton LT; Anastasiades V; Panayidou K;
Georghiou D; Kalli E; Gabriel G; Myrianthopoulos NC

Cyprus Institute of Neurology and Genetics, Nicosia.

We report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary transmission appears to be autosomal dominant with quite variable expressivity.

[back to list]


08409887 93119887
Br J Dermatol (ENGLAND) Dec 1992, 127 (6) p630- 4, ISSN 0007- 0963 Journal Code: AW0

Restrictive dermopathy: a disorder of fibroblasts.

Paige DG; Lake BD; Bailey AJ; Ramani P; Harper JI

Department of Dermatology, Hospital for Sick Children, London, U.K.

Restrictive dermopathy is a rare, lethal genodermatosis, characterized by a thin, tightly adherent skin which causes a dysmorphic facies, arthrogryposis and respiratory insufficiency. The recorded cases to date show a remarkable phenotypic similarity. Thinning of the dermis and the arrangement of collagen in parallel bundles appear to be constant findings. We have found many dead and degenerating fibroblasts in the dermis on ultrastructural examination, and have demonstrated their poor growth in vitro. Studies of collagen from a skin sample showed a marked increase in mature cross-links, indicating a decrease in skin collagen turnover. These findings suggest a primary disorder of fibroblasts, and may explain the apparent arrest in growth and differentiation of the skin which appears to be important in the pathogenesis of this rare condition. (19 Refs.)

[back to list]


08397597 93107597
J Child Neurol (UNITED STATES) Oct 1992, 7 (4) p387- 91, ISSN 0883- 0738 Journal Code: IA2

Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant.

Russell JW; Afifi AK; Ross MA

Department of Neurology, Faculty of Medicine, University of Iowa, Iowa City.

To investigate the diagnostic validity of electromyography in the hypotonic infant, 79 children aged 0 to 12 months, seen over a 20-year period, were studied retrospectively. The diagnoses using clinical, muscle biopsy, and laboratory characteristics were: 25 central hypotonia, 20 spinal muscular atrophy, 20 myopathy, four myotonic dystrophy, four benign congenital hypotonia, two congenital muscular dystrophy, two myasthenia gravis, one infantile inflammatory myopathy, and one arthrogryposis multiplex congenita. Using strict criteria, electromyography accurately predicted the final diagnosis in 65% of infants with spinal muscular atrophy and was consistent with the diagnosis in another 25%. In contrast, electromyography accurately predicted the final diagnosis in only 10% of infants with myopathy and was normal in 88% of infants with central hypotonia. In infants with spinal muscular atrophy, there was no difference in the predictive value of electromyography when performed in the newborn compared to older infants. Normal distal nerve conduction velocities in infants with spinal muscular atrophy may predict prognosis, since these infants had a longer survival. Electromyography thus has a high predictive value for infantile spinal muscular atrophy but not for myopathy.

[back to list]


08379452 93089452
Brain Dev
(JAPAN) Sep 1992, 14 (5) p334- 7, ISSN 0387- 7604 Journal Code: 35J

Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy.

Yoshioka M; Kuroki S; Nigami H; Kawai T; Nakamura H

Department of Pediatrics, Kobe General Hospital, Japan.

A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in addition to pachygyria on CT. At the age of 3 years, retinal detachment developed in both eyes. Another sibling exhibited at birth such characteristic features as pachygyria, cephalocele, hydrocephalus, retinal detachment in both eyes, elevated serum creatine kinase activity and arthrogryposis multiplex congenita. We consider these findings to be more consistent with Walker-Warburg syndrome (WWS) than with FCMD. Anencephaly found in the third sibling was regarded as WWS with extreme brain abnormality. The appearance of two syndromes (FCMD and WWS) in the three members of the same family suggests that these syndromes could be allelic with variable phenotypes.

Languages:

  • English

[back to list]


08376743 93086743
Neuropediatrics (GERMANY) Oct 1992, 23 (5) p260- 2, ISSN 0174- 304X Journal Code: NZA

Congenital caudal spinal atrophy: a case report.

Tsukamoto H; Inagaki M; Tomita Y; Ohno K

Division of Child Neurology,
Tottori University Faculty of Medicine,
Yonago, Japan.

An infant presented at birth with symmetrical flaccid paraparesis limited to lower legs and feet, and involving the proximal and distal muscle group. Limitation of the ankle joints was noticed. There were no sensory deficits to painful stimuli and no evidence of loss of sphincter control. Muscle CT revealed severe muscle atrophy in the pelvis and lower limbs, and electromyographic study of the bilateral hamstrings showed polyphasic giant potentials. Motor and sensory nerve conduction velocities were within normal limits, and the spinal MRI showed no structural abnormalities in the cord and the lower spine. These features suggest a congenital segmental abnormality at the anterior horn cell level in the lumbosacral spinal cord, which we propose to call "congenital caudal spinal atrophy."

Languages:

  • English

[back to list]


08367628 93077628
J Bone Joint Surg Br
(ENGLAND) Nov 1992, 74 (6) p902- 5, ISSN 0301- 620X Journal Code: HK7

Ehlers-Danlos syndrome with soft-tissue contractures.

Hamada S; Hiroshima K; Oshita S; Doi T; Ono K

Department of Orthopaedic Surgery, Osaka Rosai Hospital, Japan.

We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or Marfan's syndrome. The characteristic triad of signs of Ehlers-Danlos disease gradually appeared from four to six years of age, allowing us to establish the correct diagnosis. We discuss the differential diagnosis of these connective-tissue disorders and the problems of the orthopaedic treatment of the associated joint deformities. Ehlers-Danlos syndrome is a heterogeneous group of metabolic diseases of collagen and our cases constitute a group which is distinct from the conventional types.

[back to list]


08358658 93068658
Spec Care Dentist
(UNITED STATES) May-Jun 1992, 12 (3) p122- 4, ISSN 0275- 1879 Journal Code: U99

The use of vacuum-molded polyvinyl acetate-polyethylene copolymer (PVAC.PE) for a handicapped patient.

Nunn JH; Wood I

The Dental School, Newcastle-upon-Tyne, England.

This paper provides a survey of recent literature on the use of mouth sticks for patients who have little or no use of their limbs. Criteria for mouth stick design, types of appliances, and the fabrication of such devices are described. Details are given of a case of a young child with arthrogryposis multiplex congenita, in whom a novel approach was used to allow the safe intra-oral retention of writing implements.

[back to list]


08314216 93024216
Mo Med
(UNITED STATES) Sep 1992, 89 (9) p671- 4, ISSN 0026- 6620 Journal Code: NEW

Skin expansion as preparation for an opening wedge osteotomy of the mid-foot in arthrogryposis.

Buebendorf ND; Concannon MJ; Gaines RW; Puckett CL

Division of Plastic & Reconstructive Surgery,
University of Missouri Health Sciences Center,
Columbia 65212.

A case report is presented in which tissue expansion is used to provide the additional skin needed during an opening wedge mid-foot osteotomy to correct a varus foot deformity in a patient with arthrogryposis multiplex congenita. Tissue expansion is a relatively new method of acquiring coverage for wounds which may have advantages over previous techniques. The risks and drawbacks of this technique will be described in detail.

[back to list]


08290063 93000063
Pediatr Neurol
(UNITED STATES) Jul-Aug 1992, 8 (4) p285- 8, ISSN 0887- 8994 Journal Code: AA5

Clinical features for prediction of survival in neonatal muscle disease.

Connolly MB; Roland EH; Hill A

Department of Pediatrics,
University of British Columbia,
British Columbia's Children's Hospital,
Vancouver, Canada.

Review of 17 newborns with muscle disease demonstrated that clinical features associated with survival beyond 1 year of age included gestational age of at least 35 weeks and requirement of mechanical ventilation for less than 21 days. In contrast, poor outcome was associated with Apgar scores below 5 at 5 min, pulmonary complications, arthrogryposis, or other congenital anomalies. The incidence of decreased fetal movements, polyhydramnios, hypotonia, and assisted delivery was not statistically different between infants who died early and those who survived beyond 1 year of age. Clinical features of newborns with muscle disease may be useful for prediction of outcome, especially when muscle biopsy abnormalities are nonspecific.

[back to list]


08244875 92382875
Ophthalmologica
(SWITZERLAND) 1992, 204 (4) p210- 4, ISSN 0030- 3755
Journal Code: OIG

Goniodysgenesis of the eye with arthrogryposis multiplex congenita.

Sakamoto T; Tawara A; Inomata H

Department of Ophthalmology,
Faculty of Medicine,
Kyushu University,
Fukuoka, Japan.

We report an autopsy case of 4-day-old male infant with arthrogryposis multiplex congenita studied by histological methods in respect to the ocular tissues. The eye examined was normal in size, and the retina, optic nerve, choroid, sclera and extracocular muscle showed no remarkable histological changes. However, the cornea was thickened, and the iris, trabecular tissue and ciliary body showed maldevelopmental changes, which were all compatible with goniodysgenesis. The clinical data of this case did not demonstrate any signs of congenital glaucoma, but the present study indicates that an infant with arthrogryposis multiplex congenita has a potential for infantile glaucoma with goniodysgenesis.

Languages:

  • English

08228194 92366194
Orthop Nurs
(UNITED STATES) Jul-Aug 1992, 11 (4) p26- 30, ISSN 0744- 6020 Journal Code: ORN

Transportation resources for pediatric orthopaedic clients.

Stout JD; Bandy P; Feller N; Stroup KB; Bull MJ

Pediatric orthopaedic surgery clients may be unable to safely, comfortably, and affordably use child safety seats (car seats) for a variety of reasons. This article describes commercially available child safety seats suitable for transporting pediatric orthopaedic surgery clients. Discussed are those children with cerebral palsy, spina bifida, hip dislocations, arthrogryposis, scoliosis, and osteogenesis imperfecta. Tags: Case Report; Female; Human; Support, Non-U.S. Gov't

[back to list]


08206354 92344354
Ann Neurol
(UNITED STATES) Mar 1992, 31 (3) p337- 40, ISSN 0364- 5134 Journal Code: 6AE

Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita.

Boylan KB; Ferriero DM; Greco CM; Sheldon RA; Dew M

Department of Neurology, Johns Hopkins University, Baltimore.

A term male infant is described with an isolated disorder of peripheral myelination. At necropsy, the great majority of medium-to-large axons were unmyelinated. Electron microscopy showed normal axons and redundant lamination of basement membrane, suggestive of early onion bulb pathology. Immunohistochemistry of peripheral nerve showed deficiency of the myelin proteins P2 and Po, myelin basic protein, and myelin-associated glycoprotein. Arrest of peripheral myelination at the promyelin stage appears to be the origin of myelin deficiency.

[back to list]


08158202 92296202
Am J Med Genet
(UNITED STATES) Jun 1 1992, 43 (3) p539- 47, ISSN 0148- 7299 Journal Code: 3L4

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.

Verloes A; Mulliez N; Gonzales M; Laloux F;
Hermanns-Le T; Pierard GE; Koulischer L

Centre for Human Genetics, Liege University, Belgium.

Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles and long bones. Histologic abnormalities include hyperplastic, abnormally keratinized epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous cases are reviewed. (19 Refs.)

[back to list]