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- W1838321891 abstract "G.A.P.O. syndrome is a rare autosomal recessive disorder whose main manifestations are growth retardation, alopecia, pseudo-anodontia, and optic atrophy. Optic atrophy has been reported in 30% of affected patients, along with other optic disc and ophthalmological abnormalities, but their causes remain unclear. We report here the ophthalmological findings in a three-year-old girl suffering from typical G.A.P.O. syndrome with ocular abnormalities and bilateral optic atrophy. Physiopathogenic hypotheses are discussed, especially concerning optic disc alterations which are probably due to intraocular hypertension." @default.
- W1838321891 created "2016-06-24" @default.
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- W1838321891 date "1990-01-01" @default.
- W1838321891 modified "2023-10-01" @default.
- W1838321891 title "[Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case]." @default.
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