Arthrogryposis Multiplex Congenita

Stern, Walter G.

doi:10.1001/jama.1923.02650180025009

Cited by 103 publications

(19 citation statements)

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“…Arthrogryposis multiplex congenita (AMC) 1 is a frequent sequence of congenital joint fixation (incidence: 1/3000 live births) secondary to decreased fetal movements in utero (1,2). AMC has been ascribed to either oligohydramnios or a variety of diseases involving the central nervous system, skeletal muscle, or spinal cord.…”

Section: Introductionmentioning

confidence: 99%

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen

Amiel²,

Viollet³

et al. 1996

J. Clin. Invest.

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The survival motor neuron ( SMN ) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible. ( J. Clin. Invest. 1996. 98:1130-1132.)

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Section: Introductionmentioning

confidence: 99%

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen

Amiel²,

Viollet³

et al. 1996

J. Clin. Invest.

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“…Referred from Rocher this condition has been prescribed as "multiple congenital articular rigidity" and the hypothesis that reduction of fetal movements was responsible (10). Term Arthrogryposis multiplex congenita is prescribed also from Sterni in 1923 at its referees" hooked joints as a characteristic of disease (11).…”

Section: Discussionmentioning

confidence: 99%

Arthrogryposis Multiplex Congenita – Case Report

2018

ARJPD

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Arthrogryposis multiplex congenita is a rare disorder that accompanies with multiple joint contractures, which can occur at delivery and are non progressive. It affects both sexes. Most of the cases have been reported from Asia, Africa and Europe. Incidence is about 1:3000 to 1:10.000 of all live newborns. The causes, for now are unknown. However, this disorder can be provoked from neuropathic and myopathic diseases or some another cause that decreases the mobility of fetal joints. Great joints of both extremities are more attacked. The muscles of the extremities that are attacked can be hypoplastic. Also, the IQ of these children can be affected. We have presented a newborn female, born in term, by normal delivery, with arthrogryposis multiplex congenita, that has been resuscitated in delivery room and endotracheal intubation was needed.In utero, there has been a suspicion from the gynecologists at the end of pregnancy, for esophageal atresia.After delivery, all the needed consults and examinations have been realized. After three weeks in Neonatal Intensive Care Unit, the baby has been discharged in a better general condition, with recommendations to further consultations with orthopedics, physiatrician and pediatrician-neurologists.

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“…AMC, originally defined as congenital joint contractures present in at least two regions of the body, is a rare birth defect [10]. It can be isolated or in association with other abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Arthrogryposis multiplex congenita with Increased Nuchal Translucency but without Any Underlying Fetal Neurogenic or Myogenic Pathology

et al. 2002

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Arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema. We report another case of arthrogryposis multiplex congenita with increased nuchal translucency and scoliosis diagnosed by ultrasonography at 15 weeks of gestation. The pregnancy was terminated at the request of the parents. Post-mortem examination revealed that it was not associated with fetal myopathy or neuropathy. Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita.

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Arthrogryposis Multiplex Congenita

Cited by 103 publications

References 0 publications

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Arthrogryposis Multiplex Congenita – Case Report

Prenatal Diagnosis of Arthrogryposis multiplex congenita with Increased Nuchal Translucency but without Any Underlying Fetal Neurogenic or Myogenic Pathology

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