Camptodactyly and the 22q11.2 deletion syndrome

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.

Keywords: 22q11 microdeletion syndrome (22q11.2DS); DiGeorge syndrome (DGS); camptodactyly; laryngeal web; laryngomalacia; sub-glottic stenosis; velocardiofacial syndrome (VCFS).