Ectodermal dysplasia, primary hypothyroidism and agenesis of the corpus callosum: Variable expression of a single syndrome?

M. Silengo, L. Silvestro, G. Capizzi, M. Lerone, M. Seri, L. Rosaia, G. Romeo

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)157-158
Number of pages2
JournalJournal of Medical Genetics
Volume35
Issue number2
Publication statusPublished - 1998

Keywords

  • CNS malformation
  • Dysplasia
  • Ectodermal
  • Hypothyroidism
  • Mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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