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DiGeorge syndrome: consider the diagnosis
  1. Ellery Altshuler1,
  2. Arwa Saidi2 and
  3. Jeffrey Budd1
  1. 1Internal Medicine, University of Florida College of Medicine, Gainesville, Florida, USA
  2. 2Pediatrics, Internal Medicine, Pediatric Cardiology, University of Florida College of Medicine, Gainesville, Florida, USA
  1. Correspondence to Dr Ellery Altshuler; ElleryAltshuler{at}


DiGeorge syndrome (DGS) is caused by a chromosomal microdeletion at 22q11.2 that results in impaired development of the pharyngeal pouch system. Patients with DGS may have developmental abnormalities of craniofacial structures, parathyroid glands, thymus and cardiac outflow tract. Doctors have been routinely testing for DGS in newborns with conotruncal cardiac anomalies since the late 1990s; before then, however, they relied on complex diagnostic criteria and the disease was often missed. Adults born with conotruncal defects before the late 1990s may have undiagnosed DGS. We present one such case: a 35-year-old woman with a cardiac diagnosis of tetralogy of Fallot and unilateral absence of a pulmonary arter who was found to have DGS. Identifying DGS in adults is important both for disease management and genetic counselling. Our case emphasises the importance of screening for DGS in adults who were born with conotruncal cardiac abnormalities before widespread neonatal testing became common.

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  • Contributors EA conceived of the idea for the case reports and was primarily responsible for writing the manuscript. EA also helped with background research. AS assisted with writing the manuscript and provided subject matter expertise. JB helped with background research and assisted in the writing of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.