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Keywords:

  • advanced bone age;
  • bone dysplasia;
  • consanguinity;
  • 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.