FRONTONASAL DYSPLASIA WITH OPTIC DISC ANOMALIES AND OTHER MIDLINE CRANIOFACIAL DEFECTS - A REPORT OF 6 CASES

The association of optic disc abnormalities with basal encephaloceles, specifically of the sphenoethmoidal type, and midline facial clefts h as rarely been reported, although the association of midline facial cl efts with encephaloceles is well described. We now report six cases of children, three males and three females, presenting with a sphenoethm oidal encephalocele, optic disc anomalies, midline facial clefting, hy pertelorism, complete or partial agenesis of the corpus callosum, and endocrinological disturbances, including diabetes insipidus and pituit ary dysfunction. This report underlines the importance of careful opht halmic and endocrinological investigation of children with midline cle fts associated with basal encephaloceles, These cases may represent a distinct entity within the spectrum of frontonasal dysplasia. Clin Dys morphol 7: 157-162. (C) 1998 Lippincott-Raven Publishers.