| Spondylar dysplasia in type X collagenopathy. | |
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MedLine Citation:
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PMID: 11214689 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. OBJECTIVE: To elucidate whether or not spondylar dysplasia is common in patients with mutations of COL10A1. MATERIALS AND METHODS: We re-evaluated the radiological manifestations in six patients with mutations of COL10A1, who had been previously reported as having MDS. RESULTS: Two of six patients showed mild platyspondyly in infancy and early childhood. In both patients, the spondylar dysplasia tended to normalize with age, but mild alterations of the vertebral bodies persisted, even into late childhood. The other radiological manifestations of both patients were identical to those of MDS. CONCLUSION: Our observation suggests that mild spondylar dysplasia may not be uncommon in MDS. |
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Authors:
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G Nishimura; N Manabe; K Kosaki; N Haga; H Ohashi; K Nakamura; S Ikegawa |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric radiology Volume: 31 ISSN: 0301-0449 ISO Abbreviation: Pediatr Radiol Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2001-02-14 Completed Date: 2001-04-26 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: Germany |
Other Details:
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Languages: eng Pagination: 76-80 Citation Subset: IM |
Affiliation:
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Nishi-Tama Hospital, Tokyo, Japan. gen-n@dokkpmed.ac.jp |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Bones of Upper Extremity
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abnormalities,
radiography Collagen / genetics* Heterozygote Humans Infant Japan Leg Bones / abnormalities, radiography Male Mutation Osteochondrodysplasias / genetics*, radiography* Spine / abnormalities, radiography |
| Chemical | |
Reg. No./Substance:
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9007-34-5/Collagen |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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