Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
case_report · Level V
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- Record sourced from PubMed, PMID 8474109.
- Also identified by PMC identifier 1016309.
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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.
Medical subject headings
- Brain
- Ectodermal Dysplasia
- Facial Bones
- Intellectual Disability