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 skeletal 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 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.