Hearing loss as a presenting symptom of cleidocranial dysplasia

Objectives: To report two cases of cleidocranial dysplasia in which hearing loss was the first presenting symptom. Study design: Retrospective case review. Patients: Two cases of cleidocranial dysplasia, a rare autosomal dominant s keletal dysplasia affecting both membranous and enchondral bone formation. Setting: Tertiary referral center. Interventions: Clinical, audiometric, and imaging diagnostic procedures. Conclusion: With this report, we want to illustrate the possibility of a ra re genetic disorder as the underlying cause of hearing loss. We also want t o emphasize the need for a multidisciplinary approach and evaluation of une xplained hearing loss to obtain a correct diagnosis, which is important for genetic counseling and management of the patient and his or her family.