Familial distal arthrogryposis type I.
Distal arthrogryposis type I is defined by congenital joint contractures of hands and feet and is inherited in an autosomal dominant fashion. The hands are most frequently involved than the feet, 98% and 88% of the cases, respectively. The authors report a family with five patients affected over four generations. This family demonstrates the marked intra-familial variability in expression of this condition. Inter-familial variability is also typical of distal arthrogryposis type I.
Stoll
C
C
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Alembik
Y
Y
Dott
B
B
D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography