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

Abstract excerpt

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.

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