Camptodactyly and the 22q11.2 deletion syndrome. Issue 2 (28th October 2016)

• Record Type: Journal Article
• Authors: Couser, Natario L.; Pande, Chetna K.; Walsh, Jonathan M.; Tepperberg, James; Aylsworth, Arthur S.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 2(2017)
• Page Start: 515
• Page End: 518
• Publication Date: 2016-10-28
• Subjects: camptodactyly -- laryngeal web -- sub‐glottic stenosis -- laryngomalacia -- 22q11 microdeletion syndrome (22q11.2DS) -- DiGeorge syndrome (DGS) -- velocardiofacial syndrome (VCFS); Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38029
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : We describe a 5‐day‐old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10 other cases with camptodactyly. Camptodactyly appears to be an associated but rarely reported anomaly in patients with the 22q11.2 microdeletion syndrome.© 2016 Wiley Periodicals, Inc.