[Familial mesomelial dwarfism (Nievergelt syndrome)]

Abstract

Familial mesomelic dwarfism was first described in 1944 by K. NIEVERGELT, who reported on a father and 3 sons by 3 different mothers who had shortening of the middle segment limbs. in the present study the family described by NIEVERGELT in 1944 is reevaluated and the mode of inheritance investigated over a period of 3 generations. Six patients with mesomelic dwarfism were found out of 43 family members. Two patients, a son of the first patient with mesomelic dwarfism and his son, were seen at our institution. Both presented a rare deformity-combination of the upper and lower extremities. In the upper extremities radio-ulnar synostosis, asymmetrically shaped elbow joints, subluxations of the radial head and a deficient supination capacity of the forearm were diagnosed. The deformities were nearly symmetrical, but a slight predilection for the left forearm was noted. In the lower extremities atypical club-feet with supination of the forefeet, shortening of tibia and fibula and marked synostosis of tarsal and metatarsal bones were seen. The legs were rhombic and supination and pronation of the forefeet were severely reduced. Synostosis of the tibia and fibula and deformities of the toes were found in both patients. The mode of inheritance was considered to be autosomal dominant with high penetrance. It is concluded that familial mesomelic dwarfism is an autosomal dominant disease of the upper and lower limbs with atypical club-feet, marked radio-ulnar, tibia-fibular and tarsal synostosis and deformities of the elbow joints.