We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were
Family with autosomal dominant hidrotic ectodermal dysplasia: A previously unrecognised syndrome?
β Scribed by Christianson, A. L.; Fourie, S.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 28 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
W e describe a three-generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho-and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia. We consider that the clinical manifestations in this family differ significantly from those of the Clouston syndrome (their previous diagnosis) and places them in Group A, subgroup 1-3 (tricho-onychic) of the ectodermal dysplasia classification proposed by Freire-Maia and Pinheiro 11988, "Ectodermal Dysplasias"].
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