Revesz syndrome
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Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure.[2] Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation,[3] ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson syndrome.[4] It is a variant of dyskeratosis congenita.[5]
Quick Facts Other names, Causes ...
Revesz syndrome | |
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Other names | Dyskeratosis congenita with bilateral exudative retinopathy [1] |
Revesz syndrome is inherited in an autosomal dominant manner | |
Causes | Genetic |
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