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Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
  1. M Silengo,
  2. L Silvestro,
  3. G Capizzi,
  4. M Lerone,
  5. M Seri,
  6. L Rosaia,
  7. G Romeo
  1. Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, Italy.

    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.

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