Revesz syndrome

Revesz syndrome
Other namesDyskeratosis congenita with bilateral exudative retinopathy
Revesz syndrome is inherited in an autosomal dominant manner
CausesGenetic

Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson syndrome. It is a variant of dyskeratosis congenita.

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