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Autosomal dominant ectodermal dysplasia.
J Craniofac Genet Dev Biol. 1987; 7(4):403-12.JC

Abstract

A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized types of ED were unsuccessful. Affected members of the family have mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Autosomal dominant inheritance is proposed. Scanning electron microscopy on the hair of members of the family is presented. While there is no specific pattern of defects of the hair of affected persons, the cuticular layer is defective and there are longitudinal grooves in the hair shafts.

Authors+Show Affiliations

Jorgenson RJ
Department of Pediatric Dentistry, University of Texas Health Science Center, San Antonio 78284.
Dowben JS
No affiliation info available
Dowben SL
No affiliation info available

MeSH

Child, PreschoolEctodermal DysplasiaFemaleGenes, DominantHairHumansHypohidrosisMalePedigree

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

3429615

Citation

Jorgenson, R J., et al. "Autosomal Dominant Ectodermal Dysplasia." Journal of Craniofacial Genetics and Developmental Biology, vol. 7, no. 4, 1987, pp. 403-12.
Jorgenson RJ, Dowben JS, Dowben SL. Autosomal dominant ectodermal dysplasia. J Craniofac Genet Dev Biol. 1987;7(4):403-12.
Jorgenson, R. J., Dowben, J. S., & Dowben, S. L. (1987). Autosomal dominant ectodermal dysplasia. Journal of Craniofacial Genetics and Developmental Biology, 7(4), 403-12.
Jorgenson RJ, Dowben JS, Dowben SL. Autosomal Dominant Ectodermal Dysplasia. J Craniofac Genet Dev Biol. 1987;7(4):403-12. PubMed PMID: 3429615.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant ectodermal dysplasia. AU - Jorgenson,R J, AU - Dowben,J S, AU - Dowben,S L, PY - 1987/1/1/pubmed PY - 1987/1/1/medline PY - 1987/1/1/entrez SP - 403 EP - 12 JF - Journal of craniofacial genetics and developmental biology JO - J Craniofac Genet Dev Biol VL - 7 IS - 4 N2 - A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized types of ED were unsuccessful. Affected members of the family have mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Autosomal dominant inheritance is proposed. Scanning electron microscopy on the hair of members of the family is presented. While there is no specific pattern of defects of the hair of affected persons, the cuticular layer is defective and there are longitudinal grooves in the hair shafts. SN - 0270-4145 UR - https://wwww.unboundmedicine.com/medline/citation/3429615/Autosomal_dominant_ectodermal_dysplasia_ DB - PRIME DP - Unbound Medicine ER -