C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

Abstract

C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS.

The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome

“…We found many of these abnormalities in our patients; additionally, a thin/small atlas was found in 38% of our patients and C1 anterior arch abnormalities including hypoplasia of arch and absent arch in another 38% of our patients. A previous article reported anterior arch abnormalities in VCFS, including anterior arch clefting of C1 vertebrae 17. Although these authors did not specifically report hypoplasia/absence of the C1 anterior arch, our review of their figures is indicative of this finding.…”

“…Upper cervical spine abnormalities, the prevalence of which is higher in patients with craniofacial syndromes, may increase the osseous pharyngeal depth predisposing the affected patients to VPD 13, 16. C1–C2 vertebral anomalies are reported to occur in above 97% of the FISH‐positive 22q11.2 deletion patients; the most frequent findings reported include lack of fusion of the anterior and/or posterior arch of C1, upswept C2 lamina and spinous process, and C2–C3 fusion 17. Other anomalies include occipitalization of atlas, dysmorphic atlas, dysmorphic atlas with open posterior arch, and narrow cervical medullary junction 11.…”

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

“…Of the multi‐system features associated with 22q11.2DS, congenital vertebral and skull base abnormalities are noteworthy in that they can, rarely, result in spinal cord compression [Konen et al, ; Hamidi et al, ]. Resulting secondary movement‐related symptoms can include muscle weakness, hyperreflexia, stiffness, and coordination problems, which may require urgent medical attention.…”

Vertebral defects as an unusual mode of presentation of 22q11.2 deletion

“…Another study had focused on the presence of cervical anomalies in 45 patients with 22q11.2 microdeletion velopharyngeal insufficiency. It appears that C1–C2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2–C3, are nearly universal when screened for [Konen et al, 2008]. The presence of vertebral anomalies may be secondary to haploinsufficiency of the TBX1 gene since the murine orthologous gene tbx1 is expressed in the vertebral column [Chapman et al, 1996].…”