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 inJournal of craniofacial genetics and developmental biology Vol. 7; no. 4; p. 403
Main Authors Jorgenson, R J, Dowben, J S, Dowben, S L
Format Journal Article
LanguageEnglish
Published Denmark 1987
Subjects
Child, Preschool
Ectodermal Dysplasia - diagnosis
Ectodermal Dysplasia - genetics
Female
Genes, Dominant
Hair - ultrastructure
Humans
Hypohidrosis - genetics
Male
Pedigree
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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.
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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  fullname: Dowben, J S
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  givenname: S L
  surname: Dowben
  fullname: Dowben, S L
BackLink https://www.ncbi.nlm.nih.gov/pubmed/3429615$$D View this record in MEDLINE/PubMed
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PublicationYear 1987
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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
URI https://www.ncbi.nlm.nih.gov/pubmed/3429615
Volume 7
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