Kajtár P, Méhes K
Department of Pediatrics, University Medical School, Pécs, Hungary.
Am J Med Genet. 1994 Feb 15;49(4):374-7. doi: 10.1002/ajmg.1320490404.
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.
一名2岁女童出现血小板减少性紫癜。临床检查及随访记录显示,其患有严重的骨髓发育不全,并伴有双侧进行性科茨视网膜病变、指甲营养不良、毛发纤细及明显的染色体不稳定。该综合征被视为雷维斯综合征的一种变体,与先天性角化不良有一些共同表现。