Publication
Title
Hearing loss as a presenting symptom of cleidocranial dysplasia
Author
Abstract
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.
Language
English
Source (journal)
Otology and neurotology. - Philadelphia, Pa.
Publication
Philadelphia, Pa. : 2001
ISSN
1531-7129
Volume/pages
22:6(2001), p. 855-857
ISI
000172260700025
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 06.06.2012
Last edited 14.06.2017