C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability.


OBJECTIVE
To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI).


METHODS
Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies.


RESULTS
C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI.


CONCLUSIONS
C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS.
Konen
Osnat
O
Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada. konen@zahav.net.il
Armstrong
Derek
D
Clarke
Howard
H
Padfield
Nancy
N
Weksberg
Rosanna
R
Blaser
Susan
S
D000015:Abnormalities, Multiple; D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D011857:Radiographic Image Interpretation, Computer-Assisted; D012189:Retrospective Studies; D013577:Syndrome; D014057:Tomography, X-Ray Computed