Skip Navigation LinksHome > October 2012 - Volume 34 - Issue 7 > Report of a Young Girl With MYH9 Mutation and Review of the...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e3182678fc9
Clinical and Laboratory Observations

Report of a Young Girl With MYH9 Mutation and Review of the Literature

Landi, Daniel MD*; Lockhart, Evelyn MD; Miller, Sara E. PhD; Datto, Michael MD, PhD; Rehder, Catherine PhD; Kanaly, Angela MS; Thornburg, Courtney D. MD, MS*

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Abstract

MYH9 mutations cause the inherited macrothrombocytopenic 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.

© 2012 Lippincott Williams & Wilkins, Inc.

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