Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence

Abstract

Cerebro-costo-mandibular syndrome is a rare disorder characterized by psychomotor retardation, posterior rib-gap defects, and the orofacial defects of Pierre Robin sequence. Most cases are sporadic, but several familial cases have been reported, many of which support autosomal recessive inheritance. We present a case of autosomal dominant inheritance from father to son; the seventh known case of dominant transmission. We also review the findings, inheritance pattern, and outcomes of Pierre Robin sequence that are useful in managing affected patients.