ADDA - Autosomálně dominantní distální artrogrypóza typ II

Abstract

Arthrogryposis is a highly heterogenous entity. The classic congenital form of contractures is called amyoplasia and the majority is sporadic. Distal milder form with normal intelligence is autosomal dominant (ADDA) and shows intrafamiliar variability. Type I involves primarily of distal part of hands and feet with camptodactyly, characteristic position overlapping fingers, clenched fists, ulnar deviation of fingers and positional foot deformities. Type II has in addition to hand and feet contractures other defects like short neck and stature, congenital hip dislocation, scoliosis with vertebral anomaly and inguinal hernia. Author refers one family with occurrence of ADDA in three generations and akcentation.