| Literature DB >> 8160728 |
Abstract
A 2-year-old girl presented with thrombocytopenic purpura. Clinical examination and follow-up documented severe bone marrow hypoplasia associated with bilateral progressive Coats 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.Entities:
Mesh:
Year: 1994 PMID: 8160728 DOI: 10.1002/ajmg.1320490404
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299