Cerebro-costo-mandibular syndrome with consanguinity.
The cerebro-costo-mandibular syndrome is a rare disorder characterized by unique posterior rib defects, micrognathia, and mental deficiency. The mode of transmission is undetermined. This report describes the first case with documented parental consanguinity as well as hitherto undescribed CT and skeletal findings.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D012272:Ribs / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome