Revesz syndrome
Evidence-based neurology checklist on revesz syndrome: 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…
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
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.
