Camptodactyly and the 22q11.2 deletion syndrome

Natario L. Couser, Chetna K. Pande, Jonathan M. Walsh, James Tepperberg, Arthur S. Aylsworth

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)515-518
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number2
DOIs
StatePublished - Feb 1 2017

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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