Otologic and audiologic features of Nager acrofacial dysostosis.

OBJECTIVE: To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis.

DESIGN: Retrospective case series.

SETTING: Multidisciplinary clinic in a tertiary care children's hospital.

SUBJECTS: Patients less than 18 years of age with Nager acrofacial dysostosis.

METHODS: Nager syndrome is a mandibulofacial dysostosis associated with preaxial limb abnormalities and multiple craniofacial anomalies. Ten patients with Nager syndrome were reviewed. Relevant literature, 1966 to the present, was reviewed with the assistance of Medline.

RESULTS: External and middle ear abnormalities are common in Nager syndrome. All non-atretic ears had significant difficulty with otitis media, requiring an average of two sets of tympanostomy tubes. Cholesteatoma was diagnosed in one patient. Pure conductive hearing loss was identified in eight patients with mixed hearing loss noted in two patients. Conductive hearing loss greater than 30 dB HL was noted in 90% (9/10) of patients, with 40% (4/10) having 55-70 dB HL loss. Although amplification was effective, results of surgical interventions to correct conductive hearing loss were inconsistent. Two patients with mixed hearing loss developed the sensorineural component in later childhood, indicating that progressive or fluctuating sensorineural hearing loss is also possible in this population.

CONCLUSIONS: Pediatric patients with Nager acrofacial dysostosis exhibit conductive hearing loss due to middle and external ear pathology. Prolonged ventilation of the middle ear via tympanostomy tubes and amplification with hearing aids are often required. Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended.