Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
- 15 February 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 49 (4) , 374-377
- https://doi.org/10.1002/ajmg.1320490404
Abstract
A 2‐year‐old girl presented with thrombocytopenic purpura. Clinical examination and follow‐up documented severe bone marrow hypoplasia associated with bilateral progressive Coasts retinopathy, nail dystrophy, fine hair, and apparent chromosome instability. The syndrome is regarded as a variant of the Révész syndrome sharing some findings of dyskeratosis congenita.Keywords
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