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

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

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...

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Bibliographic Details
Main Authors: Spenser S. Souza, Lia Jacobson, Dylan Chan, Anna Meyer, Jarod L. Roland, Kimberly Luu
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Otolaryngology Case Reports
Subjects:
DiGeorge syndrome
22q11.2 deletion syndrome
Midline skull base defects
Pediatric otolaryngology
Endoscopic skull base repair
Craniopharyngeal canal
Online Access:http://www.sciencedirect.com/science/article/pii/S2468548822000388

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http://www.sciencedirect.com/science/article/pii/S2468548822000388

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