title: Foot anomalies in Antley-Bixler syndrome: three case reports.
abstract: 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.
authors.affiliation: Department of Orthopaedics Surgery, Kanagawa Children's Medical Centre, Minami-ku, Yokohama City, Japan. nnakamura@kcmc.jp
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Nakamura
authors.forename: Masanori
authors.initials: M
authors.lastname: Adachi
authors.forename: Jiro
authors.initials: J
authors.lastname: Machida
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Okuzumi
mesh_terms: D000293:Adolescent; D000328:Adult; D054882:Antley-Bixler Syndrome Phenotype / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy*; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy*; D006801:Humans; D008297:Male; D019637:Orthopedic Procedures / Q000379:methods; D010027:Osteotomy / Q000379:methods; D026741:Physical Therapy Modalities; D011788:Quality of Life; D011859:Radiography; D018570:Risk Assessment; D012494:Sampling Studies; D016896:Treatment Outcome