title: Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
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.
authors.affiliation: Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Silengo
authors.forename: L
authors.initials: L
authors.lastname: Silvestro
authors.forename: G
authors.initials: G
authors.lastname: Capizzi
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: L
authors.initials: L
authors.lastname: Rosaia
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D061085:Agenesis of Corpus Callosum; D002508:Cephalometry; D019465:Craniofacial Abnormalities / Q000235:genetics; D004452:Echocardiography; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000503:physiopathology; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D013576:Syndactyly / Q000235:genetics; D013972:Thyrotropin / Q000032:analysis
chemical_list: D013972:Thyrotropin