Cervico-Oculo-Acoustic Syndrome

A congenital condition affecting mostly females and consisting of deafness, vertebral fusion, and abducens palsy.

COA Syndrome; Wildervanck Syndrome.

First described by the Dutch geneticist L.S. Wildervanck in 1952.

Approximately 85 cases have been described.

Most cases appear to be sporadic, however, polygenic and X-linked dominant inheritance have been discussed.

Deafness is a result of a bony malformation of the inner ear. The Klippel-Feil Syndrome (see Clinical Aspects) may involve fusion of cervical, thoracic, and/or lumbar vertebrae; however, fusion of C2-C3 is the most common form.

Based on clinical findings of the (sometimes incomplete) triad of bilateral abducens paresis with Duane retraction syndrome, deafness, and Klippel-Feil syndrome. Diagnostic imaging is used to confirm the vertebral anomalies.

Deafness may be sensorineural, conductive, or mixed. The neck has a webbed appearance, and there is a variable degree of cervical fusion (Klippel-Feil syndrome). Abducens nerve palsy with globe retraction on looking medially is present (Duane retraction syndrome). Additional abnormalities may include short stature, microcephaly, hydrocephalus, brainstem and cerebellar hypoplasia, occipital meningocele, structural facial asymmetry, facial palsy, strabismus, cleft palate, scoliosis, Sprengel deformity (elevated, hypoplastic scapula), spina bifida, preauricular, tags and pseudopapilledema. One case report describes Diastematomyelia of the lower medulla and cervical cord that was accompanied by vermian hypoplasia and tonsillar herniation of the cerebellum resulting in triventricular hydrocephalus. Cardiac defects such as atrial and/or ventricular septal defects may be present. Intelligence usually is normal, but some patients with mental retardation have been reported.

Patients with the Klippel-Feil syndrome are vulnerable to cervical cord injury during laryngoscopy and during head and neck movements. Evaluate the spine clinically, and obtain conventional radiographs and/or computed tomography scanning. Neurologic lesions occur most frequently at the cervicooccipital junction. Assess for increased intracranial pressure and congenital cardiac lesions (echocardiography may be required). In a minority of cases, lung and/or kidney problems have been described. In this case, lung function tests with blood gas analysis and/or a complete blood count with serum concentrations of electrolytes, creatinine, and blood urea nitrogen may be indicated.

Patients may have cervical instability and are at high risk for spinal cord injury during direct laryngoscopy, tracheal intubation, and positioning for surgery. The patient should be managed as an unstable cervical spine and should have inline stabilization for laryngoscopy and intubation. However, tracheal intubation may be difficult because of restricted neck movement. Given the risk of spinal lesions on intubation, awake fiberoptic intubation is the technique of choice. Alternatively, asleep fiberoptic intubation or (intubating) laryngeal mask can be used (particularly in children), however then the “real-time” neurologic monitoring of the awake patient is not available in this scenario. Use of continuous spinal cord monitoring (if available) is then recommended. Intraoperatively, the head and neck should be maintained in a position that has been determined preoperatively to be safe. Meticulous attention must be paid to positioning, particularly if the patient is to be turned prone. Recommendations are to use regional anesthesia whenever possible. Incremental central neuraxial techniques may be preferable to single-shot techniques to control block height. However, central neuraxial blocks may be difficult to perform in the presence of the anomalies described and are contraindicated in patients with increased intracranial pressure.

Muscle relaxants should be avoided until the airway has been secured. In the presence of congenital cardiac lesions, subacute bacterial endocarditis prophylaxis may be necessary.

Duane Retraction Syndrome: A neuroophthalmologic condition associated with abnormal ocular movement, usually not accompanied by other congenital anomalies.

Klippel-Feil Syndrome: Syndrome characterized by the congenital fusion of any two of the seven cervical vertebrae resulting in shortness of the neck, restricted neck movements, and low posterior hair line.

Goldenhar Syndrome: Common birth defect of vascular origin involving the first and second branchial arch derivatives resulting mainly in hemifacial microsomia with absent ear, eye, and vertebral anomalies. Usually associated with cardiovascular anomalies including ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot, and coarctation of the aorta. Arnold-Chiari malformation and hydrocephalus have been reported.