Camptodactyly and the 22q11.2 deletion syndrome

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

doi:10.1002/ajmg.a.38029

Camptodactyly and the 22q11.2 deletion syndrome

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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 language	English (US)
Pages (from-to)	515-518
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.38029
State	Published - 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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10.1002/ajmg.a.38029

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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.",

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AU - Aylsworth, Arthur S.

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Camptodactyly and the 22q11.2 deletion syndrome

Abstract

Keywords

ASJC Scopus subject areas

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