Article Text

Download PDFPDF
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
  1. D Soekarman,
  2. J P Fryns
  1. Centre for Human Genetics, University of Leuven, Belgium.

    Abstract

    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.

    Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.