Cerebro-costo-mandibular syndrome.
Cerebro-costo-mandibular syndrome is a rare disorder characterized by rib malformations, various degrees of cerebral maldevelopment, mental deficiency, palatal defects, and micrognatia. This syndrome was first described in 1966. The majority of cases are sporadic, but a few instances of familial occurrence have been reported, some with an autosomal recessive pattern of inheritance. Mortality in early age has been high, probably mostly due to respiratory insufficiency secondary to rib abnormalities and flail chest. We report a mother and son with this disorder, suggesting autosomal dominant transmission.
Flodmark
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Department of Diagnostic Radiology, Central Hospital Halmstad, Sweden.
Wattsgård
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001921:Brain / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D013577:Syndrome