TY - JOUR 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 SP - 245 LP - 247 DO - 10.1136/jmg.30.3.245 VL - 30 IS - 3 AU - D Soekarman AU - J P Fryns Y1 - 1993/03/01 UR - http://jmg.bmj.com/content/30/3/245.abstract N2 - 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. ER -