Synostoses, Tarsal, Carpal, And Digital
Clinical Features
Pearlman et al. (1964) described mother and daughter with multiple carpal and tarsal synostoses (carpal and tarsal coalition) as well as radial-head subluxation, aplasia or hypoplasia of the middle phalanges, and metacarpophalangeal synostoses. The latter synostoses seem comparable to those that occur in the 2 more distal joints in the 2 forms of symphalangism (185700, 185800). Although the authors felt this to be the disorder described by Nievergelt (see Nievergelt syndrome, 163400), this is almost certainly not the case but a distinct entity is involved.
Bersani and Samilson (1957) described a mother and her daughter and son with massive synostosis of tarsal bones. No specific statement was made about the state of the carpal bones. Wray and Herndon (1963) observed calcaneonavicular coalition in 3 generations. Isolated fusion of carpal and tarsal bones was described by Kewesch (1934). Diamond (1974) observed talocalcaneal coalition in a mother and 3 of her 8 children. It is probable that this is a disorder distinct from the more common calcaneonavicular bridges.