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Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of
1Centre for Human Genetics, University of Leuven, Belgium.
Journal of Medical Genetics
|March 1, 1993
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.