22q11.2 Deletion Syndrome – A series of patients with midline skull base defects

Spenser S. Souza, Lia Jacobson, Dylan Chan, Anna Meyer, Jarod L. Roland, Kimberly Luu

Research output: Contribution to journalArticlepeer-review


22q11.2DS impacts pharyngeal arch development resulting in conotruncal cardiac anomalies, hypoplastic thymus, and hypoparathyroidism. Our study further develops this phenotype by describing rare midline skull base defects. Patients were identified through retrospective review of patients presenting to craniofacial multidisciplinary clinic at a quaternary academic medical center. Pathologic variants included fossa navicularis (FN), nasal dermoid (ND), ethmoid encephalocele (EE), and craniopharyngeal canal (CNC); two of which were managed by novel endoscopic approaches. Discussion of midline craniofacial anomalies beyond cleft lip and palate in 22q11.2DS patients is novel. Awareness of other anomalies may prove crucial in meeting these patients' diverse care needs.

Original languageEnglish
Article number100429
JournalOtolaryngology Case Reports
StatePublished - Jun 2022


  • 22q11.2 deletion syndrome
  • Craniopharyngeal canal
  • DiGeorge syndrome
  • Encephalocele
  • Endoscopic skull base repair
  • Fossa navicularis
  • Midline skull base defects
  • Nasal dermoid
  • Pediatric otolaryngology


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