Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family
Version of Record online: 24 NOV 2003
Journal of Paediatrics and Child Health
Volume 39, Issue 9, pages 707–712, December 2003
How to Cite
Lam, W., Chan, H. and Sillence, D. (2003), Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family. Journal of Paediatrics and Child Health, 39: 707–712. doi: 10.1046/j.1440-1754.2003.00252.x
- Issue online: 24 NOV 2003
- Version of Record online: 24 NOV 2003
- Accepted for publication 22 January 2003.
- advanced bone age;
- bone dysplasia;
- Desbuquois syndrome
Abstract: Two siblings from China have been observed with severe short stature of prenatal onset and developmental delay. The radiographic features were characteristic of Desbuquois syndrome. The association of a genetic skeletal dysplasia and developmental delay is a relatively rare combination, although this syndrome is readily diagnosable from its distinctive radiographic features.