Medline Abstracts, Arthrogryposis, 1997-1998

Pediatr Surg Int 1997;12(8):607-10

Successful separation of thoraco-omphalopagus and ischiopagus tetrapus twins in Korea.

Jung PM

Pediatric Surgical Division, Department of Surgery, Hanyang, University Hospital, 17 Haengdang dong, Sung dong ku, Seoul, Korea.

A pair of male thoraco-omphalopagus twins with common liver, diaphragm, pericardium, and sternum was separated at the age of 59 days after a parasitic relationship had developed between them. Before separation one baby developed acute renal failure during which he had no edema and had normal serum electrolytes, urea nitrogen, and creatinine due to "autodialysis" by the other baby. The boys have now grown normally to the age of 6 years. A pair of female ischiopagus tetrapus twins who had a common terminal ileum and colon with imperforate anus was separated at the age of 20 h. The smaller baby had congenital multiple arthrogryposis of both lower extremities, a fracture at the middle of the left femur, and a double vagina with hydrocolpos due to an imperforate hymen of the right vagina and a rectovaginal fistula on the left. Posterior sagittal rectoplasties were performed at 7 months of age in both babies. They have normal bowel movements. All four children are alive and developing normally. These are the first two case reports of successfully separated conjoined twins in Korea.

MeSH Terms:

  • Abnormalities, Multiple/surgery*
  • Adult
  • Case Report
  • Colon/abnormalities*
  • Female
  • Follow-Up Studies
  • Human
  • Ileum/abnormalities*
  • Infant, Newborn
  • Ischium/abnormalities*
  • Male
  • Pregnancy
  • Thorax/abnormalities*
  • Twins, Conjoined/surgery*

PMID: 9354737, UI: 98022986

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Anaesth Intensive Care 1997 Oct;25(5):546-9

Intraoperative convulsions in a child with arthrogryposis.

Ferris PE

Department of Anaesthesia, Royal Alexandra Hospital for Children, Westmead, N.S.W.

A case of intraoperative convulsions occurring in a child with arthrogryposis multiplex congenita is presented. Arthrogryposis and the anaesthetic management of children with this condition is discussed. Factors which may have contributed to the convulsions are considered.

MeSH Terms:

  • Anesthetics, Inhalation/administration & dosage
  • Anesthetics, Intravenous/administration & dosage
  • Arthrogryposis/physiopathology*
  • Case Report
  • Convulsions/etiology*
  • Fever/etiology
  • Fundoplication
  • Gastroesophageal Reflux/surgery
  • Human
  • Infant
  • Intraoperative Complications*
  • Intubation, Intratracheal
  • Male
  • Neuromuscular Nondepolarizing Agents/administration & dosage
  • Nitrous Oxide/administration & dosage
  • Tachycardia, Sinus/etiology
  • Thiopental/administration & dosage
  • Vecuronium Bromide/administration & dosage

Substances:

  • Thiopental
  • Vecuronium Bromide
  • Nitrous Oxide
  • Neuromuscular Nondepolarizing Agents
  • Anesthetics, Intravenous
  • Anesthetics, Inhalation

PMID: 9352771, UI: 98014137

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Am J Hum Genet 1997 Nov;61(5):1139-43

A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter.

Shohat M, Lotan R, Magal N, Shohat T, Fischel-Ghodsian N, Rotter JI, Jaber L

Medical Genetics and Felsenstein Medical Research Center, Rabin Medical Center, Beilison Campus, Petah Tiqva, Israel. mshohat@ccsg.tau.ac.il

Arthrogryposis multiplex congenita (AMC) is a heterogeneous-symptom complex characterized by joint contractures at birth that involve more than one part of the body. We performed a genetic-linkage study of one large Israeli-Arab inbred kindred showing autosomal recessive inheritance of AMC neuropathic type that had been recently investigated by our group. After analysis of approximately 80% of the genome, D5S1456, which showed no increased homozygosity, showed increased genotype sharing in affected individuals. Linkage analysis in all family members revealed linkage between AMC and D5S1456 on chromosome 5qter (maximum LOD score 5.3 at recombination fraction .001). Analysis of additional markers in this region places the gene causing AMC in this family between D5S1456 and D5S498.

MeSH Terms:

  • Arabs
  • Arthrogryposis/genetics*
  • Arthrogryposis/ethnology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5/genetics*
  • Female
  • Genes, Recessive/genetics
  • Human
  • Israel
  • Linkage (Genetics)*
  • Lod Score
  • Male
  • Microsatellite Repeats/genetics
  • Pedigree
  • Software
  • Support, Non-U.S. Gov't

PMID: 9345093, UI: 98007998

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Am J Med Genet 1997 Oct 31;72(3):335-8

Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?

Coleman RA, Van Hove JL, Morris CR, Rhoads JM, Summar ML

Department of Nutrition, University of North Carolina at Chapel Hill 27599, USA.

We report on 4 children from 2 unrelated families who appear to have the lethal ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of nephrogenic diabetes insipidus and cerebral anomalies, including deafness. With increased survival time in our patients, paucity of the intrahepatic bile ductules and cholestasis progressed to cirrhosis, growth was severely impaired, and severe mental retardation became apparent. No evidence was found for peroxisomal, chromosomal, or mitochondrial disorders. We propose to amend the ARC mnemonic to ARCC-NDI (A-Arthrogryposis, R-renal Fanconi, C-cerebral, C-cholestasis, NDI-nephrogenic diabetes insipidus) to name the major manifestations of this syndrome, several of which have not been appreciated.

MeSH Terms:

  • Abnormalities, Multiple/pathology*
  • Abnormalities, Multiple/genetics
  • Arthrogryposis/pathology*
  • Arthrogryposis/genetics
  • Case Report
  • Cholestasis/pathology*
  • Cholestasis/genetics
  • Diabetes Insipidus, Nephrogenic/pathology*
  • Diabetes Insipidus, Nephrogenic/genetics
  • Fanconi Syndrome/pathology
  • Fanconi Syndrome/genetics
  • Female
  • Human
  • Infant
  • Infant, Newborn
  • Kidney Tubules/abnormalities*
  • Male
  • Mental Retardation/pathology*
  • Mental Retardation/genetics
  • Syndrome

PMID: 9332665, UI: 97473823

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Neuropediatrics 1997 Aug;28(4):198-203

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.

Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer RJ

Department of Neurology, Children's National Medical Center, George Washington University Medical Center, Washington, DC, USA.

In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity.

MeSH Terms:

  • Abnormalities, Multiple/physiopathology
  • Abnormalities, Multiple/pathology*
  • Adult
  • Arthrogryposis/complications
  • Cerebral Cortex/physiopathology
  • Cerebral Cortex/pathology
  • Cerebral Cortex/abnormalities*
  • Child
  • Child, Preschool
  • Developmental Disabilities/pathology
  • Developmental Disabilities/etiology
  • Electroencephalography
  • Epilepsy/pathology
  • Epilepsy/etiology
  • Facial Paralysis/congenital
  • Female
  • Human
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Palate/physiopathology
  • Paralysis/congenital*
  • Retrospective Studies
  • Syndrome

PMID: 9309709, UI: 97455338

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Neurology 1997 Sep;49(3):848-51

Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene.

Bingham PM, Shen N, Rennert H, Rorke LB, Black AW, Marin-Padilla MM, Nordgren RE

Division of Child Neurology, Children's Hospital of Philadelphia, PA 19104, USA.

To determine whether SMNT deletion may be associated with arthrogryposis, we tested DNA extracted from paraffin blocks for deletion of SMNT (exons 7 and 8). Analysis of the DNA showed an SMNT deletion in two of four infants with neurogenic arthrogryposis. In addition to loss of anterior horn cells, patients with SMNT deletion had degeneration of central sensory neurons in Clarke's column and the thalamus. Although one of the patients with no deletion also had cortical pathology, clinical and pathologic characteristics of the two patients without deletion were otherwise similar to the two patients with deletion. Arthrogryposis and degeneration of sensory neurons may be associated with deletion of SMNT.

MeSH Terms:

  • Anterior Horn Cells/pathology
  • Arthrogryposis/pathology
  • Arthrogryposis/genetics*
  • Case Report
  • Exons/genetics
  • Female
  • Gene Deletion*
  • Human
  • Infant, Newborn
  • Male
  • Muscular Atrophy, Spinal/pathology
  • Muscular Atrophy, Spinal/genetics*
  • Neurons, Afferent/physiology
  • Support, U.S. Gov't, P.H.S.

Grant support:

  • HDD28815
  • NSO 1773

PMID: 9305352, UI: 97450364

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Am J Med Genet 1997 Sep 5;71(4):458-62

Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.

Coad JE, Angel C, Pierpont ME, Gorlin RJ, Anderson ML

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455, USA.

We describe a small, term, male infant with corticospinal tract aplasia secondary to motor cortex dysplasia from a neuronal proliferation and/or migrational defect. The infant also had microdolichocephaly, sloping forehead, hypertelorism, flat nose, apparently low-set ears, micrognathia, arthrogryposis without muscle wasting, cortical thumbs, rocker-bottom feet, scoliosis, single umbilical artery, and hypospadias with chordee. Oligohydramnios was present prenatally. Neurologic examination showed a comatose state, seizures, minimal spontaneous movement, minimal response to pain, and absent primitive reflexes. At autopsy, hypoplasia of kidneys and adrenal glands was found. There was no aqueductal stenosis or pulmonary hypoplasia. Chromosomes were apparently normal. These manifestations do not correspond to those of any recognized syndrome; therefore, this patient may represent a previously undefined syndrome.

MeSH Terms:

  • Abnormalities, Multiple/pathology*
  • Abnormalities, Multiple/classification
  • Adrenal Glands/abnormalities
  • Brain/pathology
  • Brain/abnormalities
  • Case Report
  • Child
  • Child, Preschool
  • Fatal Outcome
  • Female
  • Human
  • Hypospadias
  • Infant, Newborn
  • Kidney/abnormalities
  • Male
  • Microcephaly
  • Spinal Cord/abnormalities
  • Syndrome
  • Umbilical Arteries/pathology

PMID: 9286455, UI: 97432569

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Am J Med Genet 1997 Sep 5;71(4):401-5

Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?

al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS

Department of Pediatrics, Montreal Children's Hospital, McGill University, Quebec, Canada.

We report on an 8-year-old boy with clinical manifestations suggestive of a new arthrogryposis syndrome. These included characteristic craniofacial abnormalities, cleft palate, arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings. There was no intrauterine growth retardation or decreased fetal movements. Despite the poor prognosis expected in early life, the patient presented with normal mental capability on follow-up. Family data showed that a maternal first cousin of the mother (mother's brother's son) had similar findings and died in infancy. Differential diagnosis included Pena-Shokeir syndrome or phenotype, Gordon syndrome, Marden-Walker syndrome, and the syndrome of arthrogryposis with ophthalmoplegia and retinopathy. The possibility of autosomal dominant inheritance with reduced penetrance is suggested for this apparently new syndrome.

MeSH Terms:

  • Abnormalities, Multiple/radiography
  • Abnormalities, Multiple/genetics*
  • Abnormalities, Multiple/classification
  • Case Report
  • Child
  • Craniofacial Abnormalities/radiography
  • Craniofacial Abnormalities/genetics*
  • Craniofacial Abnormalities/classification
  • Diagnosis, Differential
  • Eye Abnormalities/radiography
  • Eye Abnormalities/genetics*
  • Eye Abnormalities/classification
  • Female
  • Human
  • Intelligence
  • Male
  • Syndrome

PMID: 9286445, UI: 97432559

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Am J Med Genet 1997 Aug 8;71(2):127-9

Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome?

Anderson T

Canterbury Archaeological Trust, Kent, UK.
A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. It is suggested that the combination of abnormalities may represent the earliest case of arthrogryposis multiplex congenita or Larsen syndrome.

Publication Types:

  • Historical article

MeSH Terms:

  • Abnormalities, Multiple/history*
  • Arthrogryposis/history*
  • Cleft Lip/history
  • Cleft Palate/history
  • Foot Deformities, Congenital/history
  • Great Britain
  • History of Medicine, 16th Cent.
  • Human
  • Infant, Newborn
  • Male
  • Medical Illustration/history
  • Syndrome

PMID: 9217208, UI: 97360180

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J Pediatr Orthop B 1997 Jul;6(3):192-7

Arthrogrypotic joint contracture at the knee and the foot: correction with a circular frame.

Brunner R, Hefti F, Tgetgel JD

Department of Children's Orthopaedics, University of Basle, Kinderspital, Switzerland.

The purpose of this study was to investigate the efficacy of an external fixator (Ilizarov apparatus) for the treatment of severe joint contractures in patients with arthrogryposis multiplex congenita. Thirteen knees and 16 feet were treated in 13 patients at an average age of 11.9 years. The knee flexion contractures were corrected from 38.9 degrees preoperatively to a mean of 6.5 degrees postoperatively and to 17.3 degrees at follow-up (34 months). In the foot deformities, the equinus position was corrected from 29.7 degrees to 7.8 degrees on average. This external fixator is an efficient tool for correction of deformities in arthrogryposis.

Publication Types:

  • Clinical trial

MeSH Terms:

  • Adolescence
  • Arthrogryposis/surgery*
  • Arthrogryposis/physiopathology
  • Arthrogryposis/diagnosis
  • Child
  • Child, Preschool
  • Contracture/therapy*
  • Contracture/etiology
  • External Fixators*
  • Female
  • Follow-Up Studies
  • Foot Deformities, Congenital/surgery*
  • Foot Deformities, Congenital/etiology
  • Human
  • Knee Joint/surgery*
  • Knee Joint/abnormalities
  • Male
  • Range of Motion, Articular
  • Treatment Outcome

PMID: 9260648, UI: 97407415

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J Pediatr Orthop B 1997 Jul;6(3):186-91

Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita).

Murray C, Fixsen JA

Orthopaedic Department, Great Ormond Street Hospital for Children, London, United Kingdom.

We describe the management of significant knee deformity in 44 knees of 22 patients suffering from classical arthrogryposis multiplex congenita (amyoplasia congenita). Follow-up ranged from a minimum of 18 months to 19 years 3 months, with an average 7 years 8 months. Thirteen patients showed fixed flexion of the knees at birth and 9 showed fixed extension. All were treated initially by physiotherapy and splintage, which was successful in all except 1 patient in the extended-knee group, whereas only 7 to 26 knees responded to physiotherapy and splintage alone in the flexed-knee group. Walking ability in the extended-knee group was high; 8 of 9 were community walkers with or without walking aids and orthoses and only one was a therapeutic walker. By contrast, in the flexed-knee group, despite posterior release surgery, which sometimes had to be repeated, only to 6 of 13 patients were community walkers at follow-up, 2 were household walkers, 3 were therapeutic walkers, and 2 had stopped walking in adolescence and preferred to use a wheelchair full time. Long-term splintage is recommended but does not always prevent recurrence of deformity. Bony surgery was used only toward the end of growth or in one case when very severe deformity necessitated its use at an early age and it subsequently had to be repeated. Despite their severe handicap and multiple deformities, this group of children show a remarkable determination to walk with or without walking aids and orthoses.

MeSH Terms:

  • Adolescence
  • Adult
  • Arthrogryposis/surgery
  • Arthrogryposis/rehabilitation*
  • Arthrogryposis/physiopathology
  • Arthrogryposis/diagnosis
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Human
  • Infant
  • Knee Joint/physiopathology
  • Knee Joint/abnormalities*
  • Male
  • Orthopedics/methods*
  • Physical Therapy*
  • Prognosis
  • Range of Motion, Articular
  • Registries
  • Retrospective Studies
  • Treatment Outcome

PMID: 9260647, UI: 97407414

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J Pediatr Orthop B 1997 Jul;6(3):179-85

Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I.

Axt MW, Niethard FU, Doderlein L, Weber M

Department of Orthopaedic Surgery, University of Heidelberg, Germany.

The involvement of the upper limb in arthrogryposis multiplex congenita for many patients means a far-reaching dependency on outside help. The extension contracture of the elbow joint especially makes it impossible to reach the mouth or to perform hygienic necessities. Therefore, the rehabilitation program includes an improvement of passive elbow flexion by capsulotomy or of active flexion by triceps transfer if possible, or both. In bilateral involvement, the optimal solution is to have one arm in flexion for reaching the head and mouth passively or even actively and one arm in extension for hygienic necessities. From 1973 to 1993 we performed 22 releases of the elbow contracture in 16 children. An additional triceps transfer was performed in five elbows. The overall results showed a marked increase of the range of motion and a functional improvement concerning the daily activities (in 17 children). In 5 children there was no gain but also no loss of functional capacities. In 3 of 5 children with an additional triceps transfer, an improvement of active flexion was attained. Pre- and postoperative physiotherapy is at least as important as the operative procedure itself.

Publication Types:

  • Clinical trial

MeSH Terms:

  • Adolescence
  • Arm/surgery*
  • Arm/physiopathology
  • Arm/abnormalities
  • Arthrogryposis/surgery*
  • Arthrogryposis/rehabilitation*
  • Arthrogryposis/physiopathology
  • Child
  • Child, Preschool
  • Elbow Joint/surgery
  • Elbow Joint/physiopathology
  • Elbow Joint/abnormalities
  • Female
  • Foot Deformities, Congenital/therapy
  • Foot Deformities, Congenital/radiography
  • Foot Deformities, Congenital/etiology
  • Hand Deformities, Congenital/therapy
  • Hand Deformities, Congenital/radiography
  • Hand Deformities, Congenital/etiology
  • Human
  • Infant
  • Male
  • Orthopedics/methods*
  • Physical Therapy/methods*
  • Prognosis
  • Range of Motion, Articular
  • Shoulder Joint/surgery
  • Shoulder Joint/physiopathology
  • Shoulder Joint/abnormalities
  • Wrist Joint/surgery
  • Wrist Joint/physiopathology
  • Wrist Joint/abnormalities

PMID: 9260646, UI: 97407413

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J Pediatr Orthop B 1997 Jul;6(3):172-8

Multiple congenital contractures.

Vanpaemel L, Schoenmakers M, van Nesselrooij B, Pruijs H, Helders P

Department of Orthopaedics, Aalsters City Hospital, Aalst, Belgium.

A cross-sectional study of 28 patients with multiple congenital contractures of miscellaneous origin is presented. We describe the clinical, genetic, and neurological diagnosis and the involvement of upper and lower extremities and spine. All treatments that patients received so far as well as functional outcome were studied. We compared these factors in children with anterior horn cell degeneration (AHCD) or amyoplasia with those of children with contractures of other origin. A correct genetical diagnosis of multiple congenital contracture is important because children with AHCD will need more extensive treatment than others, and their functional outcome seems to be worse.

MeSH Terms:

  • Abnormalities, Multiple/therapy*
  • Abnormalities, Multiple/etiology*
  • Abnormalities, Multiple/diagnosis
  • Abnormalities, Multiple/classification
  • Adolescence
  • Adult
  • Anterior Horn Cells
  • Arthrogryposis/therapy*
  • Arthrogryposis/etiology*
  • Arthrogryposis/diagnosis
  • Arthrogryposis/classification
  • Brain Diseases/complications
  • Child
  • Child, Preschool
  • Combined Modality Therapy
  • Cross-Sectional Studies
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Human
  • Infant
  • Male
  • Orthopedics
  • Prognosis
  • Quality of Life
  • Retrospective Studies

PMID: 9260645, UI: 97407412

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J Pediatr Orthop B 1997 Jul;6(3):167-71

Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome.

Sodergard J, Hakamies-Blomqvist L,
Sainio K, Ryoppy S, Vuorinen R

Department of Surgery, Children's Hospital, Finland.

Fifty-two patients with arthrogryposis multiplex congenita were followed up for 1 to 36 years. There were six twin pregnancies, and delivery was complicated by breech position in 16 cases. In 19 cases the cause was atrophy of the alpha motoneurons of the spinal cord, detected by electromyography. Six patients did not achieve walking ability. Severe disability for other reasons was noted in two patients who had bilateral rigid extension contractures of the elbows and in six patients whose spinal deformities interfered with the balance of the trunk. Treatment of flexion contractures of the hips and knees seemed to be important in case it promotes the walking ability. Spinal deformities interfering with the balance of the trunk should be treated operatively. Restoration of elbow flexion was the main goal in operative treatment of the upper extremities. The intelligence of the patients was slightly above normal. The psychological analysis revealed significant diverging features compared with average population in testing situation. Socially the patients seemed to cope well.

MeSH Terms:

  • Adolescence
  • Adult
  • Arthrogryposis/psychology*
  • Arthrogryposis/physiopathology
  • Arthrogryposis/diagnosis*
  • Child
  • Child, Preschool
  • Disabled Persons/rehabilitation*
  • Disabled Persons/psychology*
  • Diseases in Twins
  • Electromyography
  • Female
  • Finland
  • Follow-Up Studies
  • Human
  • Infant
  • Infant, Newborn
  • Male
  • Maternal Age
  • Pregnancy
  • Pregnancy Complications
  • Prognosis
  • Psychological Tests
  • Quality of Life
  • Questionnaires
  • Social Adjustment

PMID: 9260644, UI: 97407411

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J Pediatr Orthop B 1997 Jul;6(3):159-66

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

Hall JG

Department of Pediatrics, University of British Columbia, Vancouver, Canada.

Arthrogryposis is a sign associated with many specific conditions and syndromes. It is a term used to describe the presence of multiple joint contractures that are present at birth. It can be seen in isolation or in association with other congenital abnormalities as part of a syndrome with or without central nervous system involvement. The exact pathogenesis of arthrogryposis is unknown, but all involve fetal akinesia (decreased fetal movement) with subsequent joint contractures. In this article I describe the causes, genetic aspects, classification, and approach to diagnosis.

Publication Types:

  • Review
  • Review, tutorial

Comments:

  • Comment in: J Pediatr Orthop B 1997 Jul;6(3):157

MeSH Terms:

  • Arthrogryposis/therapy
  • Arthrogryposis/genetics
  • Arthrogryposis/etiology*
  • Arthrogryposis/classification*
  • Child, Preschool
  • Contracture/physiopathology
  • Contracture/etiology
  • Contracture/diagnosis
  • Diagnosis, Differential
  • Female
  • Human
  • Infant
  • Infant, Newborn
  • Male
  • Prognosis
  • Risk Factors
  • Syndrome

PMID: 9260643, UI: 97407410