| Achondroplasia and enchondromatosis: report of three boys. | |
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MedLine Citation:
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PMID: 16763840 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals. Given the prevalence of achondroplasia and enchondromatosis, the metaphyseal changes in these patients are less likely to represent the coincidence of both disorders, but rather to result from a rare consequence of the FGFR3 mutation. Impaired FGFs/FGFR3 signaling pathway in achondroplasia inhibits chondrocytic proliferation, which accounts for most characteristics of achondroplasia. On the other hand, it causes conflicting biological consequences that can suppress or stimulate chondrocytic maturation. In a small subset of achondroplastic individuals, the suppression of chondrocytic maturation may outweigh the stimulation, which leads to cartilaginous overgrowth into the metaphysis, eventually causing the metaphyseal dysplasia found in the present patients. |
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Authors:
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Chikahiko Numakura; Hironori Kobayashi; Yukihiro Hasegawa; Masanori Adachi; Ok Hwa Kim; Gen Nishimura |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-06-09 |
Journal Detail:
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Title: Skeletal radiology Volume: 36 Suppl 1 ISSN: 0364-2348 ISO Abbreviation: Skeletal Radiol. Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-05-07 Completed Date: 2007-10-18 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7701953 Medline TA: Skeletal Radiol Country: Germany |
Other Details:
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Languages: eng Pagination: S29-33 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. cnumakur@med.id.yamagata-u.ac.jp |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Achondroplasia
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genetics*,
radiography Adolescent Enchondromatosis / genetics*, radiography Humans Male Mutation Receptor, Fibroblast Growth Factor, Type 3 / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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