The term osteochondrodysplasia is usually used synonymously with skeletal dysplasia, and merely means a dysplasia involving bone and cartilage.
These conditions typically affect collagen metabolism, and often found as part of a skeletal dysplasia syndrome (e.g. Cantu sydnrome)1-3. As such the term osteochondrodysplasia should not be used as a specific diagnosis.
- 1. Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D et-al. [Osteochondrodysplasia determined genetically by a collagen type II gene mutation]. Chir Narzadow Ruchu Ortop Pol. 2001;66 (1): 79-86. Pubmed citation
- 2. Rosser EM, Kaariainen H, Hurst JA et-al. Three patients with the osteochondrodysplasia and hypertrichosis syndrome-Cantu syndrome. Clin. Dysmorphol. 1998;7 (2): 79-85. Pubmed citation
- 3. Robertson SP, Kirk E, Bernier F et-al. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am. J. Med. Genet. 1999;85 (4): 395-402. Pubmed citation