Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic criterion to establish the diagnosis.
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I
タイトル
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
