Arthrogryposis multiplex congenita

Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body regions.

Epidemiology

Mostly reported in individuals of Asian, African and European descent with equal incidence in males and females . It is thought to occur in approximately 1:3000-10,000 live births .

Pathology

It can result from a number of pathologies. Altered fetal movement (fetal akinesia) is considered a contributor in pathogenesis. Genetic causes may be present in only 30% of cases.

Associations

Arthrogryposis can be associated with numerous syndromic as well as non-syndromic associations: Over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression.

• syndromic
  • Pena-Shokeir syndrome
  • multiple pterygium syndrome
  • Fowler syndrome
  • Freeman Sheldon syndrome 
• non-syndromic/isolated
  • CNS anomalies: can be present in ~10% of cases
    • agenesis of the corpus callosum
    • lissencephaly
    • fetal ventriculomegaly
    • aplasia of the cerebellar vermis
  • neuromuscular disorders
    • amyoplasia congenita: some report that this is one of the most common causative associations

Radiographic features

Antenatal ultrasound

A lack of fetal movement is considered to be a key feature. Abnormalities are present at birth and are not progressive over time. Fixed contractures and lack of mobility results in poor muscle formation and development in affected regions.

Antenatal ultrasound may additionally show direct evidence of contractures such as:

• abnormal limb/extremity positioning
  • clenched hands
  • knotted fingers
  • persistently extended legs
  • persistently bent legs
• clubbed feet
• scoliosis: long C-shape neurogenic type

and/or indirect features such as:

• short umbilical cord
• oligohydramnios
• polyhydramnios : some forms
• pulmonary hypoplasia
• camptodactyly
• micrognathia

Treatment and prognosis

The prognosis is highly variable and is dependent on associated anomalies and severity.

History and etymology

The term arthrogryposis is derived from the Greek words meaning "curved or hooked joints".

See also

• fetal akinesia deformation sequence

Siehe auch:

• Lungenhypoplasie
• Polyhydramnion
• Oligohydramnion
• Mikrognathie
• Lissenzephalie
• Kamptodaktylie
• Klumpfuß
• fetal ventriculomegaly
• Pena-Shokeir-Syndrom
• short umbilical cord
• Freeman-Sheldon-Syndrom
• amyoplasia congenita
• fetal akinesia deformation sequence
• clenched hands
• Fowler-Syndrom
• Dysgenesie des Corpus callosum
• multiple pterygium syndrome
• ARC-Syndrom

und weiter:

• Karpale Koalition
• obstetric curriculum
• Os carpale
• kongenitale Kniegelenksluxation
• PPROM
• fetal akinesia / hypokinesia sequence
• lethal multiple pterygium syndrome
• Antekubitales Pterygiumsyndrom
• pre term premature rupture of membranes
• Pena-Shokeir-Syndrom I
• Sheldon-Hall-Syndrom
• Paine-Syndrom
• arthrogryposis of the knee: MRI findings
• Alves-Syndrom