Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome

The purpose of this investigation was to evaluate the prevalence of Chiari malformation, cervical spine anomalies, and neurologic deficits in patients with velocardiofacial syndrome. This study was a prospective evaluation of 41 consecutive patients with velocardiofacial syndrome, documented by fluo rescence in situ hybridization, between March of 1994 and September of 1998 . The 23 girls and 18 boys ranged in age from 0.5 to 15.2 years, with a mea n age of 6.7 years. Nineteen patients were assessed with magnetic resonance imaging, 39 underwent lateral cephalometric radiography, and all patients were examined for neurologic deficits. Eight of 19 patients (42 percent) ha d anomalies of the craniovertebral junction, including Chiari type I malfor mations (n = 4), occipitalization of the atlas (n = 3), and narrowing of th e foramen magnum (n = 1). One patient with Chiari malformation required sub occipital craniectomy with laminectomy and decompression. Fourteen of 41 pa tients (34 percent) had demonstrated neurologic deficits; 10 patients (24 p ercent) had velar paresis (6 unilateral and 4 bilateral). Chiari malformati ons, cervical spine anomalies, and neurologic deficits are common in veloca rdiofacial syndrome. Because these findings may influence the outcome of su rgical intervention, routine assessment of patients with velocardiofacial s yndrome should include careful orofacial examination, lateral cephalometric radiography, and magnetic resonance imaging of the craniovertebral junctio n.