THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE

We report seven patients with the cerebro-costo-mandibular syndrome, a multiple congenital anomaly syndrome with, as the most distinctive fe atures extreme micrognathia and abnormal rib development. Twice a pare nt to child transmission was found, compatible with autosomal dominant mode of inheritance. One of our patients presented with absence of th e auditory canals and subluxation of the radial head, and another with choanal atresia, findings that have not been published previously. Lo ngterm follow-up of some of the patients is described, and an overview of the literature is given. (C) Chapman & Hall Ltd.