DISTAL ARTHROGRYPOSIS TYPE-1 - CLINICAL ANALYSIS OF A LARGE KINDRED

We describe the clinical findings of 15 individuals in a large kindred affected with distal arthrogryposis type 1A (DA1A). The most consiste nt findings among individuals were overlapping fingers at birth, abnor mal digital flexion creases, and foot deformities, including talipes e quinovarus and vertical talus. There was marked intrafamilial variatio n in the expression of DA1A. Linkage mapping of the locus for DA1A sug gests that the use of strict diagnostic criteria excludes unaffected i ndividuals rigorously, but can produce incomplete ascertainment of aff ected individuals. In the context of an affected family, the range of phenotypes consistent with a diagnosis of DA1A needs to be expanded. ( C) 1996 Wiley-Liss, Inc.