Hearing loss as a presenting symptom of cleidocranial dysplasia

To report two cases of cleidocranial dysplasia in which hearing loss was the first presenting symptom.

Retrospective case review.

Two cases of cleidocranial dysplasia, a rare autosomal dominant skeletal dysplasia affecting both membranous and enchondral bone formation.

Tertiary referral center.

Clinical, audiometric, and imaging diagnostic procedures.

With this report, we want to illustrate the possibility of a rare genetic disorder as the underlying cause of hearing loss. We also want to emphasize the need for a multidisciplinary approach and evaluation of unexplained hearing loss to obtain a correct diagnosis, which is important for genetic counseling and management of the patient and his or her family.