| Foot anomalies in Antley-Bixler syndrome: three case reports. | |
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MedLine Citation:
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PMID: 19471176 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Multiple joint contractures, including radiohumeral synostosis, are the hallmark of Antley-Bixler syndrome (ABS). The detailed description of the skeletal aberration, however, focused in feet is scarce. We carried out the scrutiny for foot lesion in three ABS patients with POR (nicotinamide adenine dinucleotide phosphate-oxidase-cytochrome P450 oxidoreductase) gene mutations, one of whom had undergone surgical intervention for difficulty in walking. Radiographs in all three patients showed middle cuneiform-second metatarsal synostosis and the fourth brachymetapody, irrespective of the severity of their systemic manifestations. In addition, talocalcaneal synostosis, lateral cuneiform-cuboid synostosis, defects of middle phalanx, and distal phalanx-middle phalanx synostosis were found in at least two patients. In conclusion, we found distinctive constellations of foot abnormalities in the patients of ABS with POR gene mutation, which may be useful in planning the treatment strategy, as well as in the diagnostic process. |
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Authors:
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Naoyuki Nakamura; Masanori Adachi; Jiro Machida; Shigeharu Okuzumi |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of pediatric orthopaedics. Part B Volume: 17 ISSN: 1473-5865 ISO Abbreviation: J Pediatr Orthop B Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2009-05-27 Completed Date: 2009-06-16 Revised Date: 2011-10-14 |
Medline Journal Info:
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Nlm Unique ID: 9300904 Medline TA: J Pediatr Orthop B Country: United States |
Other Details:
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Languages: eng Pagination: 241-5 Citation Subset: IM |
Affiliation:
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Department of Orthopaedics Surgery, Kanagawa Children's Medical Centre, Minami-ku, Yokohama City, Japan. nnakamura@kcmc.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Antley-Bixler Syndrome Phenotype / diagnosis*, radiography, therapy* Child, Preschool Female Follow-Up Studies Foot Deformities, Congenital / diagnosis*, radiography, therapy* Humans Male Orthopedic Procedures / methods Osteotomy / methods Physical Therapy Modalities Quality of Life* Risk Assessment Sampling Studies Treatment Outcome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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