Article
An osteosclerotic form of Robinow syndrome.
American journal of medical genetics. Part A - 1 Oct 2014
Bunn Kieran J, Lai Angeline, Al-Ani Azza, Farella Mauro, Craw Susan, Robertson Stephen P
Abstract excerpt
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...
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