Abstract
A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.
References
Alter BP. Bone marrow failure syndromes in children. Pediatr Clin N Am 2002; 49: 973–978.
Revesz T, Fletcher S, Al-Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992; 29:673–675.
Kajtar P, Mehes K. Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am J Med Genet 1994; 49:374–377.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Riyaz, A., Riyaz, N., Jayakrishnan, M.P. et al. Revesz syndrome. Indian J Pediatr 74, 862–863 (2007). https://doi.org/10.1007/s12098-007-0155-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-007-0155-2