Post-childhood Presentation and Diagnosis of DiGeorge Syndrome

Nir Friedman, Shlomit Rienstein, Yonatan Yeshayahu, Doron Gothelf, Raz Somech

Research output: Contribution to journalArticlepeer-review

Abstract

Background and Objectives. The diversity of clinical presentations makes the diagnosis of DiGeorge syndrome (DGS) a diagnostic challenge. The objective of our study was to report the clinical presentation of DGS in the post-childhood period. Methods. A retrospective study, investigating patients diagnosed clinically and genetically with DGS at Sheba Medical Center during the period of 2010-2013. Post-childhood period was defined as age >10 years. Results. During the study period, 29 patients were diagnosed with DGS. Nine (31%) patients with DGS were diagnosed in their post-childhood period. The basis for clinical suspicion was diverse. However, once the suspicion was brought to attention, additional symptoms consistent with DGS were noted at up to 88% of patients who presented characteristic of facial features and developmental delay. Conclusion. Our research shows that diagnosing DGS patients in the post-childhood period is not uncommon. Characteristic facial features and developmental delay, although not leading presenting symptoms, are found very frequently in patients with DGS.

Original languageEnglish
Pages (from-to)368-373
Number of pages6
JournalClinical Pediatrics
Volume55
Issue number4
DOIs
StatePublished - 1 Apr 2016

Keywords

  • 22q11deletion syndrome
  • DiGeorge syndrome (DGS)
  • Partial DGS
  • diagnostic challenge
  • post-childhood period

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