Title
Hearing loss as a presenting symptom of cleidocranial dysplasia Hearing loss as a presenting symptom of cleidocranial dysplasia
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Philadelphia, Pa. ,
Subject
Human medicine
Source (journal)
Otology and neurotology. - Philadelphia, Pa.
Volume/pages
22(2001) :6 , p. 855-857
ISSN
1531-7129
ISI
000172260700025
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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.
E-info
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000172260700025&DestLinkType=RelatedRecords&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000172260700025&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000172260700025&DestLinkType=CitingArticles&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848