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GAPO syndrome: report of three affected brothers.

Identifieur interne : 005780 ( PubMed/Curation ); précédent : 005779; suivant : 005781

GAPO syndrome: report of three affected brothers.

Auteurs : A R Gagliardi ; C H González ; R. Pratesi

Source :

American journal of medical genetics [ 0148-7299 ] ; 1984.

RBID : pubmed:6507472

Descripteurs français

KwdFr :
- Alopécie (génétique), Atrophie optique (génétique), Bouche édentée (génétique), Consanguinité, Crâne (imagerie diagnostique), Enfant, Enfant d'âge préscolaire, Espérance de vie, Gènes récessifs, Humains, Mâle, Nanisme (génétique), Pedigree, Radiographie, Syndrome.
MESH :
- génétique : Alopécie, Atrophie optique, Bouche édentée, Nanisme.
- imagerie diagnostique : Crâne.
- Consanguinité, Enfant, Enfant d'âge préscolaire, Espérance de vie, Gènes récessifs, Humains, Mâle, Pedigree, Radiographie, Syndrome.

English descriptors

KwdEn :
- Alopecia (genetics), Child, Child, Preschool, Consanguinity, Dwarfism (genetics), Genes, Recessive, Humans, Life Expectancy, Male, Mouth, Edentulous (genetics), Optic Atrophy (genetics), Pedigree, Radiography, Skull (diagnostic imaging), Syndrome.
MESH :
- diagnostic imaging : Skull.
- genetics : Alopecia, Dwarfism, Mouth, Edentulous, Optic Atrophy.
- Child, Child, Preschool, Consanguinity, Genes, Recessive, Humans, Life Expectancy, Male, Pedigree, Radiography, Syndrome.

Abstract

We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.

DOI: 10.1002/ajmg.1320190203
PubMed: 6507472

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Le document en format XML

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<term>Crâne (imagerie diagnostique)</term>
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<term>Genes, Recessive</term>
<term>Humans</term>
<term>Life Expectancy</term>
<term>Male</term>
<term>Pedigree</term>
<term>Radiography</term>
<term>Syndrome</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Consanguinité</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Espérance de vie</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Mâle</term>
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<front><div type="abstract" xml:lang="en">We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.</div>
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<Abstract><AbstractText>We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.</AbstractText>
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GAPO syndrome: report of three affected brothers.

GAPO syndrome: report of three affected brothers.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki