Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.
In this report we present the unique combination of hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum in a two year old, severely mentally retarded boy.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Chrzanowska
K
K
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007037:Hypothyroidism / Q000150:complications / Q000235:genetics*; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male