Epstein's syndrome: case report and survey of the literature.
A diagnosis of Epstein's syndrome was made in a young female with congenital macrothrombopathic thrombocytopenia, a nephropathy and mild sensorineural deafness. Previous case reports of this rare disorder are briefly reviewed and attention is drawn to the frequent association between inherited thrombocytopenia and renal disease.
Standen
G R
GR
Department of Haematology, University Hospital of Wales, Heath Park, Cardiff, UK.
Saunders
J
J
Michael
J
J
Bloom
A L
AL
D000328:Adult; D005260:Female; D006801:Humans; D009394:Nephritis, Hereditary / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications / Q000175:diagnosis*