Cervical vertebral anomalies in patients with anomalies of the head and neck

Congenital head and neck anomalies can occur in association with vertebral anomalies, particularly of the cervical vertebrae. While the former are easily recognized, especially when part of a syndrome, the latter are often occult, thereby delaying their diagnosis. The presence of vertebral anomalies must be considered in pediatric patients with head and neck abnormalities to expedite management of select cases and to prevent neurologic injury. We present our experience with 5 pediatric patients who were referred to the Department of Otolaryngology-Head and Neck Surgery at the University of Iowa with a variety of syndromic anomalies of the head and neck. Each patient was subsequently also found to have a vertebral anomaly. The relevant embryogenesis of the anomalous structures is discussed, with highlighting of potential causes such as teratogenic agents and events and germ-line mutations. A review of syndromes having both head and neck and vertebral anomalies is presented to heighten awareness of otolaryngologists evaluating children with syndromic disorders. Finally, the findings on radiographic imaging studies, particularly computed tomography, are discussed to facilitate the prompt diagnosis of vertebral anomalies.