| Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis. | |
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MedLine Citation:
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PMID: 19057846 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Osteopoikilosis is a rare, usually asymptomatic, autosomal dominant bone disorder, which is usually found incidentally on X-ray. Klippel-Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. In this case report, we describe a woman with osteopoikilosis associated with type 2 Klippel-Feil syndrome. Additionally, four female members of her family had osteopoikilosis. We state that possible syndromes that can go with osteopoikilosis must be kept in mind in case of an incidental diagnosis in daily practice. |
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Authors:
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Serdar Toker; Volkan Kilincoglu; Koray Unay; Erden Erturer; Figen Taser; Erim Gulcan; Demet Ilhan |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-12-05 |
Journal Detail:
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Title: Clinical rheumatology Volume: 28 ISSN: 1434-9949 ISO Abbreviation: Clin. Rheumatol. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2008-12-23 Completed Date: 2009-04-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8211469 Medline TA: Clin Rheumatol Country: Belgium |
Other Details:
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Languages: eng Pagination: 235-8 Citation Subset: IM |
Affiliation:
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Medical Faculty Department of Orthopaedics and Traumatology, Dumlupinar University, Kutahya, Turkey. tokerserdar@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Cervical Vertebrae / radiography Female Genetic Predisposition to Disease Humans Incidental Findings Klippel-Feil Syndrome / diagnosis*, genetics* Middle Aged Osteopoikilosis / diagnosis*, genetics* Pedigree* |
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