CEREBRO-COSTO-MANDIBULAR SYNDROME

We describe two boys with the cerebro-costomandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory ins ufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short; pala te, preauricular tag, paraumbilical fibroma, and a small and narrow th orax. His chest roentgenographs showed marked hypoplasia of the first to tenth rib, multiple posterior rib-gaps in the only four ossified ri bs. Tracheomalacia and stenosis of the left ureter was observed during autopsy. No structural cerebral anomalies were observed. Respiratory distress necessitated a tracheostomy in the second boy. He had severe micrognathia with glossoptosis and a cleft soft palate were noted. His chest roentgenograph showed a bell-shaped, small thorax with multiple dorsal rib-gap defects. CCMS is a rare disorder often associated with Pierre Robin anomaly. Chest roentgenographs show the typical posterio r rib-gap defects, which are quite variable. CCMS usually occurs as an isolated event in a family. Of 41 reported families four reports desc ribe horizontal and two describe vertical transmission of CCMS. This m ight imply genetic heterogeneity with autosomal recessive and autosoma l dominant inheritance. Inter- and intrafamilial expression is variabl e. Careful family studies are necessary before genetic counseling is g iven. (C) 1996 Wiley-Liss, Inc.