Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
- 1 March 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (3) , 245-247
- https://doi.org/10.1136/jmg.30.3.245
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.Keywords
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