Osebold-Remondini Syndrome

Description

The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985).

Clinical Features

Osebold et al. (1985) described a kindred in which 7 members had a constellation of skeletal anomalies which appeared to constitute a distinct syndrome. The middle phalanges of the hands and feet were hypoplastic or absent. The limbs showed mesomelic shortening, and the affected persons were in general somewhat short. The terminal phalanges of the index fingers deviated radially. In younger members, x-rays showed delayed coalescence of bipartite calcanei. All were of normal intelligence. In the wrist the hamate and capitate bones were joined. Sheffield et al. (1987) pointed to similarities between the Osebold-Remondini syndrome and the mild type of chondrodysplasia punctata, and Osebold (1987) reviewed differences between the two.

Inheritance

Male-to-male transmission and affected persons in 3 generations in the family reported by Osebold et al. (1985) suggested autosomal dominant inheritance of the disorder.