We present two unrelated children, a male and a female, with signs of ectodermal dysplasia, mental retardation agenesis/dysgenesis of the corpus callosum, and primary hypothyroidism. Reports of ectodermal dysplasia with CNS malformations or hypothyroidism or both are rare. We suggest that the condition we describe is a distinct entity within the large group of ectodermal dysplasia syndromes and that it has a variable clinical spectrum. As both males and females are affected and in a few reports some parents show minimal signs, the inheritance is likely to be autosomal dominant.
|Number of pages||2|
|Journal||Journal of Medical Genetics|
|Publication status||Published - 1998|
- CNS malformation
- Mental retardation
ASJC Scopus subject areas