Robinow syndrome

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

Retrognathia

An abnormality in which the mandible is mislocalised posteriorly.


Total: 1

                      


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PMID (PMCID)
16259327
MALE Infant
Robinow Syndrome: a case report.
Gulcan H, Akinci A, Aktar A.
Genet Couns. 2005;16(3):297-300.
A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.