Maxillo-Mandibular Development in Cerebrocostomandibular Syndrome

Cerebrocostomandibular syndrome is a potentially lethal developmental disorder characterized by mental handicap, palatal defects, micrognathia, and severe costovertebral defects. We report a 3-day-old male neonate who died of respiratory difficulty that began at birth. Micrognathia, glossoptosis, high-arched palate, and hypoplasia of the lower half of the face were present. Multiple posterior rib defects and a narrow rib cage were associated with pulmonary hypoplasia. The rib gaps were filled with fibrovascular tissue. A facial bone study showed multifocal growth retardation involving the septal cartilage, vomer, and mandibular condyle, indicative of maxillomandibular growth arrest. The tongue had an abnormal genioglossus muscle and papillae.