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Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

Identifieur interne : 004A80 ( PubMed/Checkpoint ); précédent : 004A79; suivant : 004A81

Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

Auteurs : R E Tipton ; R J Gorlin

Source :

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

RBID : pubmed:6507471

Descripteurs français

KwdFr :
- Alopécie (génétique), Atrophie optique (génétique), Bouche édentée (génétique), Consanguinité, Enfant, Femelle, Humains, Nanisme (génétique), Syndrome, Éruption dentaire.
MESH :
- génétique : Alopécie, Atrophie optique, Bouche édentée, Nanisme.
- Consanguinité, Enfant, Femelle, Humains, Syndrome, Éruption dentaire.

English descriptors

KwdEn :
- Alopecia (genetics), Child, Consanguinity, Dwarfism (genetics), Female, Humans, Mouth, Edentulous (genetics), Optic Atrophy (genetics), Syndrome, Tooth Eruption.
MESH :
- genetics : Alopecia, Dwarfism, Mouth, Edentulous, Optic Atrophy.
- Child, Consanguinity, Female, Humans, Syndrome, Tooth Eruption.

Abstract

The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.

DOI: 10.1002/ajmg.1320190202
PubMed: 6507471

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.</div>
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Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

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)

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Pour générer des pages wiki