Document Detail

Foot anomalies in Antley-Bixler syndrome: three case reports.
MedLine Citation:
PMID:  19471176     Owner:  NLM     Status:  MEDLINE    
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.
Naoyuki Nakamura; Masanori Adachi; Jiro Machida; Shigeharu Okuzumi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric orthopedics. Part B     Volume:  17     ISSN:  1473-5865     ISO Abbreviation:  J Pediatr Orthop B     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2009-05-27     Completed Date:  2009-06-16     Revised Date:  2012-09-17    
Medline Journal Info:
Nlm Unique ID:  9300904     Medline TA:  J Pediatr Orthop B     Country:  United States    
Other Details:
Languages:  eng     Pagination:  241-5     Citation Subset:  IM    
Department of Orthopaedics Surgery, Kanagawa Children's Medical Centre, Minami-ku, Yokohama City, Japan.
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MeSH Terms
Antley-Bixler Syndrome Phenotype / diagnosis*,  radiography,  therapy*
Child, Preschool
Follow-Up Studies
Foot Deformities, Congenital / diagnosis*,  radiography,  therapy*
Orthopedic Procedures / methods
Osteotomy / methods
Physical Therapy Modalities
Quality of Life*
Risk Assessment
Sampling Studies
Treatment Outcome

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