Report of a young girl with MYH9 mutation and review of the literature.

Published

Journal Article (Review)

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.

Full Text

Duke Authors

Cited Authors

  • Landi, D; Lockhart, E; Miller, SE; Datto, M; Rehder, C; Kanaly, A; Thornburg, CD

Published Date

  • October 2012

Published In

Volume / Issue

  • 34 / 7

Start / End Page

  • 538 - 540

PubMed ID

  • 23007341

Pubmed Central ID

  • 23007341

Electronic International Standard Serial Number (EISSN)

  • 1536-3678

Digital Object Identifier (DOI)

  • 10.1097/MPH.0b013e3182678fc9

Language

  • eng

Conference Location

  • United States