Ophthalmic Aspects Of Gapo Syndrome: Case Report And Review

dc.creatorRim P.H.H.
dc.creatorMarques-De-Faria A.P.
dc.date2005
dc.date2015-06-26T14:08:28Z
dc.date2015-11-26T14:08:19Z
dc.date2015-06-26T14:08:28Z
dc.date2015-11-26T14:08:19Z
dc.date.accessioned2018-03-28T21:08:54Z
dc.date.available2018-03-28T21:08:54Z
dc.identifier
dc.identifierOphthalmic Genetics. , v. 26, n. 3, p. 143 - 147, 2005.
dc.identifier13816810
dc.identifier10.1080/13816810500229058
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-32044445051&partnerID=40&md5=170eab8e1a2f87cce8ed48f1e86e99a4
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/93596
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/93596
dc.identifier2-s2.0-32044445051
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1240974
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. Copyright © Taylor and Francis Inc.
dc.description26
dc.description3
dc.description143
dc.description147
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dc.languageen
dc.publisher
dc.relationOphthalmic Genetics
dc.rightsfechado
dc.sourceScopus
dc.titleOphthalmic Aspects Of Gapo Syndrome: Case Report And Review
dc.typeArtículos de revistas


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