Hearing Loss in Two Cases of Craniometaphyseal Dysplasia

Introduction: Craniometaphyseal dysplasia is a rare genetic disease marked by progressive thickening of the craniofacial bones and aberrant development of the metaphyses in long bones. As a result of diffuse hyperostosis of the skull base, neurological symptoms associated with cranial nerve compression, such as reduced vision, cranial nerve palsy, and deafness can occur. Craniofacial abnormalities include hypertelorism, frontonasal bossing, broad nasal root, prognathic mandible, and defective dentition. The responsible gene is the ANKH. Several studies report hearing loss in patients with craniometaphyseal dysplasia.

Objectives: We report two cases of craniometaphyseal dysplasia focusing on the audiologic/otologic features, as well as their management.

Resumed Report: A 4-year-old male patient (patient 1) presented with a moderate bilateral conductive hearing loss. Two ventilation tube insertions were performed at the age of 5 and 7 years. At the age of 9 years, a bilateral mixed hearing loss was identified in the postoperative audiogram and bilateral hearing aids were adapted. A 7-year-old female patient (patient 2) first presented in our institution with a chief complaint of hearing loss. First hearing evaluation, at 9 years, showed moderate bilateral mixed hearing loss. Nasal turbinectomy and tympanotomy with ventilation tube insertions were performed. Her next two audiograms revealed mild-to-moderate bilateral mixed hearing loss. Hearing aids were indicated.

Conclusion: We describe hearing impairment in two cases of craniometaphyseal dysplasia before and after the insertion of ventilation tube. Otologic surgery has a limited audiometric benefit in general and hearing aids can be indicated. Further investigation on the sensorineural component of the hearing impairment is suggested.