Ophthalmic Aspects Of Gapo Syndrome: Case Report And Review.

dc.creatorRim, Priscila Hae Hyun
dc.creatorMarques-de-Faria, Antonia Paula
dc.date2005-Sep
dc.date2015-11-27T13:02:33Z
dc.date2015-11-27T13:02:33Z
dc.date.accessioned2018-03-29T01:01:40Z
dc.date.available2018-03-29T01:01:40Z
dc.identifierOphthalmic Genetics. v. 26, n. 3, p. 143-7, 2005-Sep.
dc.identifier1381-6810
dc.identifier10.1080/13816810500229058
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/16272061
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/196476
dc.identifier16272061
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1296709
dc.descriptionThis paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, 27 individuals have been reported with this diagnosis. They were from at least 19 different families (four of them from Brazil, including the present one), suggesting a founder effect. The phenotype of this condition, initially considered as the result of an ectodermal dysplasia, could be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, especially ophthalmological features that include bilateral glaucoma, are reviewed and discussed.
dc.description26
dc.description143-7
dc.languageeng
dc.relationOphthalmic Genetics
dc.relationOphthalmic Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAdult
dc.subjectAlopecia
dc.subjectAnodontia
dc.subjectAstigmatism
dc.subjectConsanguinity
dc.subjectFemale
dc.subjectGrowth Disorders
dc.subjectHumans
dc.subjectHyperopia
dc.subjectIntraocular Pressure
dc.subjectOptic Atrophy
dc.subjectPedigree
dc.subjectSyndrome
dc.subjectVisual Acuity
dc.titleOphthalmic Aspects Of Gapo Syndrome: Case Report And Review.
dc.typeArtículos de revistas


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