Revesz syndrome

Revesz syndrome

An extremely rare condition (OMIM:268130) characterised by bilateral exudative retinopathy, intrauterine growth retardation, fine sparse hair, reticulated skin pigmentation, ataxia due to cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, progressive psychomotor retardation and apparent chromosome instability.

Molecular pathology
Defects of TINF2, which encodes a protein of the shelterin complex that protects telomeres from being shortened by DNA repair, cause Revesz syndrome (retinopathy exudative with bone marrow failure).
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References in periodicals archive ?
Cian suffers from Revesz Syndrome, a severe form of Dyskeratosis Congenita which affects one child in a million and involves the failure of the bone marrow to produce normal blood cells.
[7-9] Second, Revesz syndrome (RS) presents with BMF and exudative retinopathy, IUGR, sparse fine hair, and central nervous system calcifications; some patients also show nail dystrophy and oral leukoplakia.
Patients with DC-related disorders may present along a clinical spectrum encompassing severe multisystem disease in infancy (e.g., HoyeraalHreidarsson and Revesz syndromes) and later-onset, tissue-restricted disorders such as pulmonary fibrosis.