Health supervision for people with Bloom syndrome

Christopher M Cunniff, Amir Reza Djavid, Steven Carrubba, Bernard Cohen, Nathan A. Ellis, Carolyn Fein Levy, Stacy Jeong, Howard M. Lederman, Maria Vogiatzi, Michael F. Walsh, Ann Graham Zauber

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility.

Original languageEnglish (US)
Pages (from-to)1872-1881
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number9
DOIs
StatePublished - Sep 2018

Keywords

  • Bloom syndrome
  • DNA repair
  • cancer surveillance
  • chromosome instability
  • health supervision

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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