Autosomal dominant ectodermal dysplasia
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....
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Published in | Journal of craniofacial genetics and developmental biology Vol. 7; no. 4; p. 403 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Denmark
1987
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Subjects | |
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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. |
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AbstractList | 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. |
Author | Dowben, S L Jorgenson, R J Dowben, J S |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/3429615$$D View this record in MEDLINE/PubMed |
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Snippet | A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized... |
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StartPage | 403 |
SubjectTerms | Child, Preschool Ectodermal Dysplasia - diagnosis Ectodermal Dysplasia - genetics Female Genes, Dominant Hair - ultrastructure Humans Hypohidrosis - genetics Male Pedigree |
Title | Autosomal dominant ectodermal dysplasia |
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