New form of hidrotic ectodermal dysplasia in a Lebanese family
Identifieur interne : 009930 ( Main/Exploration ); précédent : 009929; suivant : 009931New form of hidrotic ectodermal dysplasia in a Lebanese family
Auteurs : André Mégarbané [Liban] ; Ziad Noujeim [Liban] ; Michel Fabre [France] ; Vazken M. Der Kaloustian [Canada]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1998-01-13.
English descriptors
- KwdEn :
- Abnormality, Autosomal, Autosomal recessive inheritance, Blood karyotype, Centile, Consanguineous, Consanguineous parents, Deciduous teeth, Dermatoglyphic patterns, Dysplasia, Ectodermal, Ectodermal dysplasia, Ectodermal dysplasias, Fingernail, Genet, Genetique medicale, Hidrotic, Hypodontia, Incisor, Medical genetics, Molar, Nail dysplasia, Other relatives, Palmar creases, Panoramic, Panoramic radiograph, Physical examination, Present report, Recessive, Removable dentures, Sib, Upper incisors, Witkop.
- Teeft :
- Abnormality, Autosomal, Autosomal recessive inheritance, Blood karyotype, Centile, Consanguineous, Consanguineous parents, Deciduous teeth, Dermatoglyphic patterns, Dysplasia, Ectodermal, Ectodermal dysplasia, Ectodermal dysplasias, Fingernail, Genet, Genetique medicale, Hidrotic, Hypodontia, Incisor, Medical genetics, Molar, Nail dysplasia, Other relatives, Palmar creases, Panoramic, Panoramic radiograph, Physical examination, Present report, Recessive, Removable dentures, Sib, Upper incisors, Witkop.
Abstract
We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is raised. Am. J. Med. Genet. 75:196–199, 1998. © 1998 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19980113)75:2<196::AID-AJMG15>3.0.CO;2-K
Affiliations:
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Le document en format XML
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<term>Consanguineous parents</term>
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<term>Hypodontia</term>
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<term>Medical genetics</term>
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<term>Medical genetics</term>
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<term>Present report</term>
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<front><div type="abstract" xml:lang="en">We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is raised. Am. J. Med. Genet. 75:196–199, 1998. © 1998 Wiley‐Liss, Inc.</div>
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