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 : 004A81Growth 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 GorlinSource :
- American journal of medical genetics [ 0148-7299 ] ; 1984.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Alopécie, Atrophie optique, Bouche édentée, Nanisme.
- Consanguinité, Enfant, Femelle, Humains, Syndrome, Éruption dentaire.
English descriptors
- KwdEn :
- 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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pubmed:6507471Le 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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<Abstract><AbstractText>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.</AbstractText>
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