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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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

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.[1]

References

  1. Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome? Silengo, M., Silvestro, L., Capizzi, G., Lerone, M., Seri, M., Rosaia, L., Romeo, G. J. Med. Genet. (1998) [Pubmed]
 
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