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Title
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Hearing loss as a presenting symptom of cleidocranial dysplasia
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Otology and neurotology. - Philadelphia, Pa.
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Publication
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Philadelphia, Pa.
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2001
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ISSN
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1531-7129
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DOI
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10.1097/00129492-200111000-00024
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Volume/pages
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22
:6
(2001)
, p. 855-857
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ISI
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000172260700025
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Full text (Publisher's DOI)
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