ADDA - Autosomal Dominant Distal Arthrogryposis Type II
Authors:
E. Seemanová
Authors‘ workplace:
Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha vedoucí MUDr. M. Havlovicová
Published in:
Čes-slov Pediat 2003; (12): 771-774.
Category:
Overview
Arthrogryposis is a highly heterogenous entity. The classic congenital form of contractures is called amyoplasiaand the majority is sporadic. Distal milder form with normal intelligence is autosomal dominant (ADDA) andshows 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 hipdislocation, scoliosis with vertebral anomaly and inguinal hernia. Author refers one family with occurrence ofADDA in three generations and akcentation.
Key words:
autosomal dominant inheritance, congenital contractures of hands and feet, clubfoot, congenitalhip dislocation, scoliosis with vertebral anomalies
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2003 Issue 12
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