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 eas ily recognized, especially when part of a syndrome, the latter are often oc cult, 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 Iow a with a variety of syndromic anomalies of the head and neck. Each patient was subsequently also found to have a vertebral anomaly. The relevant embry ogenesis of the anomalous structures is discussed, with highlighting of pot ential causes such as teratogenic agents and events and germ-line mutations . A review of syndromes having both head and neck and vertebral anomalies i s presented to heighten awareness of otolaryngologists evaluating children with syndromic disorders. Finally, the findings on radiographic imaging stu dies, particularly computed tomography, are discussed to facilitate the pro mpt diagnosis of vertebral anomalies.