Cerebro-costo-mandibular syndrome.
The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertain. The deficiencies in the posterior portion of affected ribs are the sine qua non for diagnosis; roentgenographic confirmation is required. Since the first description of this pattern of prenatal growth defect in 1966, 19 patients who fulfill the criteria for diagnosis have been reported. We present three additional cases, one of which includes roentgenographic-pathologic correlations, and summarize the combinations of features present in previously described cases. Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D002543:Cerebral Hemorrhage / Q000150:complications; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008334:Mandible / Q000002:abnormalities*; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome