Abstract
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.
Original language | English |
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Pages (from-to) | 157-158 |
Number of pages | 2 |
Journal | Journal of Medical Genetics |
Volume | 35 |
Issue number | 2 |
Publication status | Published - 1998 |
Keywords
- CNS malformation
- Dysplasia
- Ectodermal
- Hypothyroidism
- Mental retardation
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)