Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.
The cerebro-costo-mandibular syndrome is a rare disorder, and most afflicted infants die during the first few months of life. The pertinent features of the syndrome are reviewed, and a hitherto undescribed finding in the pelvis is described. A case is reported in which vigorous treatment permitted survival. Serial roentgenograms subsequently demonstrated a progressive diminution of the characteristic posterior rib-gap defects.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001049:Apnea / Q000601:surgery; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications / Q000601:surgery; D005500:Follow-Up Studies; D005774:Gastrostomy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000000981:diagnostic imaging*; D008297:Male; D008844:Micrognathism / Q000150:complications / Q000000981:diagnostic imaging*; D011859:Radiography; D012272:Ribs / Q000002:abnormalities*; D014059:Tongue / Q000002:abnormalities; D014140:Tracheotomy