Familial Cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review

Abstract

Cerebro-costo-mandibular syndrome is characterized by the Pierre-Robin anomaly, multiple rib defects and the occasional occurrence of intellectual impairment. Over 60 cases have been reported, nearly half of which are familial. We report an infant and her father with typical features of CCMS. The child was diagnosed on prenatal ultrasound and was found to have the previously unreported prenatal finding of an omphalocoele. Twenty-eight cases of familial CCMS are reviewed. Families suggestive of autosomal recessive and autosomal dominant inheritance are not distinguishable on the basis of clinical manifestations.