Revesz syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Revesz syndrome. Features of dyskeratosis congenita (DC), Developmental delay. Fully referenced neurology checklist.
Clinical features
- Features of dyskeratosis congenita (DC)
- Developmental delay
- Bilateral exudative (“Coats”) retinopathy
- Early-onset bone marrow failure
- Fine, sparse hair
- Nail dystrophy
- Recurrent fractures and poor bone healing
- Recurrent gastrointestinal bleeding: from vascular ectasias
Radiological features
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References
- Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol 2015; 170:457-471.
- Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol 2016; 13:696-706.
- Savage SA. Beginning at the ends: telomeres and human disease. F1000Res 2018; pii: F1000 Faculty Rev-524.
