English Version
M.I. Poling · C.R. Dufresne

Distal arthrogryposis type 1

Schlüsselwörter Dieser Beitrag enthält keine Schlüsselwörter
Keywords Distal arthrogryposis type 1; ICD 10: Q74.3; Synonyms: Distal arthrogryposis multiplex congenita type I, distal arthrogryposis type 1A, distal arthrogryposis type 1B
Zusammenfassung Dieser Beitrag enthält keine Zusammenfassung

Distal arthrogryposis type 1A (DA1A) and 1B (DA1B) – congenital nonprogressive myopathies – manifested contractures of the hands and ankle-foot complex strongly resembling those observed in Freeman-Sheldon and Sheldon-Hall syndromes but lacked additional craniofacial findings. The limb malformations included in the diagnostic criteria include two or more of the following features: talipes equinovarus, metatarsus varus, vertical talus, talipes equinovalgus, calcaneovalgus, camptodactyly, ulnar deviation of wrists and fingers, overlapping fingers or toes, and hypoplastic or absent interphalangeal creases. DA1A and DA1B demonstrated an autosomal dominant inheritance pattern. There was no apparent gender, ethnic, or geographical preference, and environmental and parental factors were not implicated in pathogenesis.