Report of a young girl with MYH9 mutation and review of the literature.
MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing. We discuss our patient's clinical presentation, now with 12 years of follow-up. We also discuss management and her possible prognosis given her specific MYH9 mutation.
Landi, D; Lockhart, E; Miller, SE; Datto, M; Rehder, C; Kanaly, A; Thornburg, CD
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