| Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. | |
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MedLine Citation:
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PMID: 21208667 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11 months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20 months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems. |
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Authors:
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Suna Tokgöz-Yılmaz; Sanem Sahlı; Suat Fitoz; Gonca Sennaroğlu; Mustafa Tekin |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2011-01-03 |
Journal Detail:
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Title: International journal of pediatric otorhinolaryngology Volume: 75 ISSN: 1872-8464 ISO Abbreviation: Int. J. Pediatr. Otorhinolaryngol. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-02-15 Completed Date: 2011-07-26 Revised Date: 2012-03-07 |
Medline Journal Info:
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Nlm Unique ID: 8003603 Medline TA: Int J Pediatr Otorhinolaryngol Country: Ireland |
Other Details:
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Languages: eng Pagination: 433-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
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Ankara University School of Medicine, Ankara, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Audiometry Auditory Threshold Child, Preschool Collagen Type XI / genetics* Evoked Potentials, Auditory, Brain Stem Hearing Loss, Sensorineural / diagnosis*, genetics* Humans Male Mutation Osteochondrodysplasias / genetics Otoacoustic Emissions, Spontaneous Speech Intelligibility Spinal Diseases / genetics |
| Grant Support | |
ID/Acronym/Agency:
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R01 DC009645-01A2/DC/NIDCD NIH HHS; R01DC009645/DC/NIDCD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/COL11A2 protein, human; 0/Collagen Type XI |
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