A review of fanconi anemia for the practicing pediatrician

Justin Triemstra, An Pham, Lindsay Rhodes, Darrel J. Waggoner, Kenan Onel

Research output: Contribution to journalReview article

Abstract

Early recognition of a patient who might have Fancomi anemia by the general pediatrician and referral to a tertiary care center with a dedicated cancer risk program is critical for early diagnosis. Genetic testing and close multidisciplinary surveillance is required for patients with this syndrome and their families because of its multisystem involvement and propensity for early-onset bone marrow failure and leukemic transformation. This article reviews the clinical symptoms and signs, radiologic findings, and screening guidelines of FA for the general pediatrician.

Original languageEnglish (US)
Pages (from-to)444-452
Number of pages9
JournalPediatric Annals
Volume44
Issue number10
DOIs
StatePublished - Jan 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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