| An autosomal dominant inherited syndrome with congenital stapes ankylosis. | |
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MedLine Citation:
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PMID: 2319886 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hyperopia, broad thumbs, broad first toes, short distal phalanges, and syndactyly is reported. The conductive loss was the result of congenital stapes ankylosis and, in two cases, was associated with ankylosis of the short process of the incus in the fossa incudis. Stapedectomy improved hearing in these patients. Fused cervical vertebrate are also an associated feature. |
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Authors:
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B Teunissen; W R Cremers |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Laryngoscope Volume: 100 ISSN: 0023-852X ISO Abbreviation: Laryngoscope Publication Date: 1990 Apr |
Date Detail:
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Created Date: 1990-05-02 Completed Date: 1990-05-02 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8607378 Medline TA: Laryngoscope Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 380-4 Citation Subset: IM |
Affiliation:
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Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Ankylosis / complications, congenital* Child Ear Ossicles / abnormalities* Fingers / abnormalities Hearing Loss / congenital* Hearing Loss, Conductive / congenital*, genetics, surgery Humans Male Middle Aged Pedigree Stapes / abnormalities* Stapes Surgery Syndrome Toes / abnormalities |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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