RT Journal Article SR Electronic T1 Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity? JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 245 OP 247 DO 10.1136/jmg.30.3.245 VO 30 IS 3 A1 Soekarman, D A1 Fryns, J P YR 1993 UL http://jmg.bmj.com/content/30/3/245.abstract AB Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.