Tags

Type your tag names separated by a space and hit enter

Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome?
Am J Med Genet. 1996 Jun 28; 63(4):549-53.AJ

Abstract

We 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 [1988, "Ectodermal Dysplasias"].

Authors+Show Affiliations

Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8826433

Citation

Christianson, A L., and S Fourie. "Family With Autosomal Dominant Hidrotic Ectodermal Dysplasia: a Previously Unrecognised Syndrome?" American Journal of Medical Genetics, vol. 63, no. 4, 1996, pp. 549-53.
Christianson AL, Fourie S. Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome? Am J Med Genet. 1996;63(4):549-53.
Christianson, A. L., & Fourie, S. (1996). Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome? American Journal of Medical Genetics, 63(4), 549-53.
Christianson AL, Fourie S. Family With Autosomal Dominant Hidrotic Ectodermal Dysplasia: a Previously Unrecognised Syndrome. Am J Med Genet. 1996 Jun 28;63(4):549-53. PubMed PMID: 8826433.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome? AU - Christianson,A L, AU - Fourie,S, PY - 1996/6/28/pubmed PY - 2000/6/20/medline PY - 1996/6/28/entrez SP - 549 EP - 53 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 63 IS - 4 N2 - We 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 [1988, "Ectodermal Dysplasias"]. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/8826433/Family_with_autosomal_dominant_hidrotic_ectodermal_dysplasia:_a_previously_unrecognised_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=63&issue=4&spage=549 DB - PRIME DP - Unbound Medicine ER -