Genes and orthopedics: from gene to clinic and vice versa.

Published online: Jun 27 2002

Debeer P, De Smet L, Van De Ven WJ, Fabry G, Fryns JP.

Department of Orthopedics, University Hospital Pellenberg, Weligerveld 1, B-3212 Lubbeek, Pellenberg, Belgium.


Recent advances in molecular biology have greatly helped in understanding the mechanisms involved in normal skeletal morphogenesis. Multiple genes involved in normal skeletal development have been identified, but several others still await discovery. Mutations in these genes are often responsible for the congenital skeletal malformations that we see in the orthopedic clinics. In this overview we would like to emphasize the importance of the interaction between orthopaedic surgeons, molecular biologists and geneticists.