An osteosclerotic form of Robinow syndrome.

[oligodontia]

Robinow syndrome (RS ) is a clinically and genetically heterogenous condition primarily characterized by short stature , mesomelia , genital hypoplasia , oral abnormalities , and a facial gestalt that includes hypertelorism , a short nose , and a broad mouth . The disorder exists in both a dominant and a more severe recessive form . Here two unrelated cases of sporadic RS are described with the additional finding of axial and appendicular osteosclerosis . These two patients , coupled with three additional patients previously described in the literature , may represent a distinct sub-phenotype of this condition .