Otologic manifestations in a family with craniometaphyseal dysplasia

Abstract

Abstract Craniometaphyseal dysplasia is a rare genetic disorder classified as one of the osteochondrodysplasias. Hyperostosis is most evident in craniofacial bones. Diagnosis can be challenging, and relies on clinical and radiographic findings, which includes cranial base sclerosis and metaphyseal widening. Otologic manifestations include mixed to primarily conductive hearing loss. Temporal bone descriptions are scantily described in the literature. This report describes a pedigree of 5 family members seen in our institution with craniometaphyseal dysplasia along with interesting computed tomography images of the temporal bones that are representative of the family's anatomy. To our knowledge it represents one of the largest familial case reports reported in the literature. We discuss the relevant clinical course of the family, which illustrates the difficulty in diagnosis and severe language delays that occur when hearing loss remains unaddressed. In this family, where compliance and a lack of available family history complicated the diagnostic picture, the children remained undiagnosed until myringotomy in the operating room, which revealed a bone-filled middle ear space.