Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs.
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.
Kajtár
P
P
Department of Pediatrics, University Medical School, Pécs, Hungary.
Méhes
K
K
D000741:Anemia, Aplastic / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007642:Keratosis / Q000235:genetics*; D007971:Leukoplakia / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics*; D013577:Syndrome