Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body regions.
It is thought to occur in approximately 1:3000-10,000 live births 6,8.
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.
Arthrogryposis can be associated with numerous syndromic as well as non-syndromic associations:
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
- polyhydramnios 1: some forms
- pulmonary hypoplasia
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".
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