Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence.
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.
Wilcox
Bryan K
BK
Department of Otolaryngology and Community Sciences, State University of New York Upstate Medical University, Syracuse 13210, USA.
Tatum
Sherard A
SA
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008831:Microcephaly / Q000175:diagnosis*; D008844:Micrognathism / Q000175:diagnosis / Q000196:embryology; D010855:Pierre Robin Syndrome / Q000175:diagnosis*; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome