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 journalArticle

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.

LanguageEnglish (US)
Pages515-518
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number2
DOIs
StatePublished - Feb 1 2017

Fingerprint

DiGeorge Syndrome
Laryngomalacia
Microarray Analysis
Single Nucleotide Polymorphism
Joints
Genome

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Camptodactyly and the 22q11.2 deletion syndrome. / Couser, Natario L.; Pande, Chetna K.; Walsh, Jonathan M.; Tepperberg, James; Aylsworth, Arthur S.

In: American Journal of Medical Genetics, Part A, Vol. 173, No. 2, 01.02.2017, p. 515-518.

Research output: Contribution to journalArticle

Couser, Natario L. ; Pande, Chetna K. ; Walsh, Jonathan M. ; Tepperberg, James ; Aylsworth, Arthur S. / Camptodactyly and the 22q11.2 deletion syndrome. In: American Journal of Medical Genetics, Part A. 2017 ; Vol. 173, No. 2. pp. 515-518.
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