OSTEOCHONDRODYSPLASIAS IN SOUTH-AFRICA

Jurgen Spranger's visit to the University of Cape Town in 1974 provide d impetus for the establishment of a bone dysplasia registry. By 1996 more than 2,500 affected persons had been documented and radiographs a nd DNA had been obtained in many instances. Of these disorders, about 1,500 fall into the category of ''osteochondrodysplasias'' as listed i n the International Nomenclature [Spranger, 1992]. The numbers of affe cted persons with each of these disorders are presented in this articl e. Departmental or collaborative investigations on DNA banked in conju nction with the registry, has resulted in localization or characteriza tion of several determinant genes. In this way, Spranger's early contr ibutions to the Cape have led directly to the elucidation of several i mport genetic skeletal dysplasias. (C) 1996 Wiley-Liss, Inc.