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Type: Artigo de periódico
Title: Ophthalmic Aspects Of Gapo Syndrome: Case Report And Review.
Author: Rim, Priscila Hae Hyun
Marques-de-Faria, Antonia Paula
Abstract: This 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.
Subject: Adult
Growth Disorders
Intraocular Pressure
Optic Atrophy
Visual Acuity
Citation: Ophthalmic Genetics. v. 26, n. 3, p. 143-7, 2005-Sep.
Rights: fechado
Identifier DOI: 10.1080/13816810500229058
Date Issue: 2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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