Article Text

Download PDFPDF
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.


    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.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.