Crouzon syndrome is an autosomal dominant, rare genetic disorder often demonstrating complete penetrance and variable expressivity. It is frequently associated with cervical vertebrae abnormalities which often remain undetected. This article reports the case of an incidental finding of cervical vertebral anomaly of atlanto-occipital assimilation in an 8.5 year old boy who reported with chief complaint of inability to eat food properly, midfacial hypoplasia and class III malocclusion. When investigated thoroughly the case was identified as an undiagnosed case of Crouzon syndrome with Arnold Chiari Type I malformation with syringomyelia and asymmetry of atlantooccipital joint.
The patient’s neurological examination revealed early signs of quadriparesis and was immediately taken up for posterior cranial fossa decompression surgery. It becomes extremely imperative for an orthodontist to know the cervical vertebral anatomy and associated anomalies and to seek an appropriate referral, as he may be the first to intercept them. Further investigation are mandatory for any underlying associated disorder, as these findings can be of great importance for patients in whom these anomalies assume clinical significance necessitating early/immediate management or lifestyle changes to prevent or delay aggravation of the pathology.