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.
Departments of aOrthopaedics Surgery
bEndocrinology and Metabolism, Kanagawa Children's Medical Centre, Minami-ku, Yokohama City, Japan
Correspondence to Dr Naoyuki Nakamura, Department of Orthopaedics Surgery, Kanagawa Children's Medical Centre, Mutsukawa 2-138-4, Minami-ku, Yokohama City 232-8555, Japan
Tel: +81 45 711 2351; fax: +81 45 721 3324;