Arthrogryposis

Arthrogryposis (also known as arthrogryposis multiplex congenita) is a clinical or imaging descriptor which denotes congenital joint contractures involving two or more body regions. 

Epidemiology

It is thought to occur in approximately 1 : 3000 - 10000 live births ^6,8.

Pathology

It can result from a number of pathologies. Altered fetal movement is considered a contributor in pathogenesis.

Associations

Arthrogryposis can be associated with numerous syndromic as well as non syndromic associations

• syndromic
  • Pena Shokeir syndrome
  • multiple pterygium syndrome
  • Fowler syndrome
  • Freeman Sheldon syndrome ³
• non syndromic / isolated
  • CNS anomalies : can be present in ~ 10 % of cases ⁹
    • agenesis of the corpus callosum
    • lissencephaly
    • fetal ventriculomegaly
    • aplasia of the cerebellar vermis
  • neuro-muscular disorders
    • amyoplasia congenita : some report that this is one of most common causative associations ¹⁰

Radiographic features

Antenatal ultrasound

A lack of fetal movement is considered to be a key feature.

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

and / or indirect features such as 

• short umbilical cord
• oligohydramnios
• polyhydramnios ¹ : some forms
• pulmonary hypoplasia
• camptodactyly
• micrognathia

Treatment and prognosis

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

Etymology

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

See also

• fetal akinesia deformation sequence