JAPANESE JOURNAL OF ORAL & MAXILLOFACIAL SURGERY

Vol. 54 No. 9       2008

ISSN: 0021-5163      UBIC: 151-J

ABSTRACT

Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital anomaly that combines severe micrognathia, characteristic rib gap defects, and mental retardation. The neonatal mortality rate for this syndrome is 30 % and that before 1 year of age is 60 %. Although several hereditary cases have been reported, the true etiology is unknown. We describe a patient with CCMS in whom palatoplasty was performed at 3 years 8 months. We followed up the patient until 6 years of age. Respiratory care was carried out just after birth until 3 months. Because a bone defect of the hard palate and a submucous cleft palate were found, the patient was referred to our hospital at the age of 3 years 5 months. After assessment of her general condition by a pediatrician, palatoplasty was performed. We were concerned about the risk of respiratory disorder caused by airway obstruction, but the postoperative course was uneventful. Speech management with a speech appliance was performed to improve postoperative velopharyngeal insufficiency. Such cases with mild airway obstruction can be misdiagnosed as Pierre Robin Sequence when rib disorders are not found. It was suggested that rib disorders should be examined by X-ray films in such children with severe micrognathia. Keywords: Cerebro-costo-mandibular syndrome, cleft palate, rib gap defect.

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