Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family


Dr WF Lam, Pamela Youde Child Assessment Cenre (Kwun Tong), 3/F, 79 Cha Kwo Ling Road, Kowloon, Hong Kong, SAR, China. Fax: +852 2727 8479; email:


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.