Osteochondrodysplasias in South Africa

✍ Scribed by Beighton, Peter

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 53 KB
• Volume: 63
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960503)63:1<7::aid-ajmg4>3.0.co;2-v

✦ Synopsis

Jurgen Spranger's visit to the University of Cape Town in 1974 provided impetus for the establishment of a bone dysplasia registry. By 1996 more than 2,500 affected persons had been documented and radiographs and DNA had been obtained in many instances. Of these disorders, about 1,500 fall into the category of "osteochondrodysplasias" as listed in the International Nomenclature [Spranger, 19921. The numbers of affected persons with each of these disorders are presented in this article. Departmental or collaborative investigations on DNA banked in conjunction with the registry, has resulted in localization or characterization of several determinant genes. In this way, Spranger's early contributions to the Cape have led directly to the elucidation of several import genetic skeletal dysplasias.