title: Post-childhood Presentation and Diagnosis of DiGeorge Syndrome.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric Department of B North and Immunology Service, Edmond and Lily Safra Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Friedman
authors.affiliation: Cytogenetic Molecular Laboratory, the Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer.
authors.forename: Shlomit
authors.initials: S
authors.lastname: Rienstein
authors.affiliation: Pediatric Department of B North and Immunology Service, Edmond and Lily Safra Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel Pediatric Endocrinology Unit, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Yonatan
authors.initials: Y
authors.lastname: Yeshayahu
authors.affiliation: The Behavioral Neurogenetics Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Doron
authors.initials: D
authors.lastname: Gothelf
authors.affiliation: Pediatric Department of B North and Immunology Service, Edmond and Lily Safra Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel rsomech@hotmail.com.
authors.forename: Raz
authors.initials: R
authors.lastname: Somech
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
keywords: 22q11deletion syndrome; DiGeorge syndrome (DGS); Partial DGS; diagnostic challenge; post-childhood period