Skeletal anomalies and deformities in patients with deletions of 22q11.
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.
Ming
J E
JE
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, University of Pennsylvania, 19104, USA.
McDonald-McGinn
D M
DM
Megerian
T E
TE
Driscoll
D A
DA
Elias
E R
ER
Russell
B M
BM
Irons
M
M
Emanuel
B S
BS
Markowitz
R I
RI
Zackai
E H
EH
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