title: 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.
authors: Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University, of North Carolina at Chapel Hill, Chapel Hill, North Carolina.|Department of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
authors: Natario L
authors: NL
authors: Couser
authors: Texas Tech Health Sciences Center, Paul L. Foster School of Medicine, El Paso, Texas.|Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors: Chetna K
authors: CK
authors: Pande
authors: Department of Otolaryngology/Head and Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.|Department of Otolaryngology/Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors: Jonathan M
authors: JM
authors: Walsh
authors: LabCorp, Research Triangle Park, North Carolina.
authors: James
authors: J
authors: Tepperberg
authors: Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University, of North Carolina at Chapel Hill, Chapel Hill, North Carolina.|Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
authors: Arthur S
authors: AS
authors: Aylsworth
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D010808:Physical Examination; D020641:Polymorphism, Single Nucleotide
keywords: 22q11 microdeletion syndrome (22q11.2DS); DiGeorge syndrome (DGS); camptodactyly; laryngeal web; laryngomalacia; sub-glottic stenosis; velocardiofacial syndrome (VCFS)