title: Skeletal anomalies and deformities in patients with deletions of 22q11.
abstract: Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly. An anomaly of the lower limb was found in 16 patients, including postaxial polydactyly, clubfoot, severely overfolded toes, and 2-3 toe cutaneous syndactyly. Chest films of 63 patients were examined; 30% of them had abnormal findings, most commonly supernumerary ribs (17%) or a "butterfly" vertebral body (11%). Hypoplastic vertebrae, hemivertebrae, and vertebral coronal clefts were also noted. Thus, skeletal anomalies are not uncommon in patients with a 22q11.2 deletion and may occur more frequently than recognized previously.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, University of Pennsylvania, 19104, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Ming
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: T E
authors.initials: TE
authors.lastname: Megerian
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: E R
authors.initials: ER
authors.lastname: Elias
authors.forename: B M
authors.initials: BM
authors.lastname: Russell
authors.forename: M
authors.initials: M
authors.lastname: Irons
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: R I
authors.initials: RI
authors.lastname: Markowitz
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000293:Adolescent; D000328:Adult; D001132:Arm / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D008297:Male; D011859:Radiography; D012272:Ribs / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities