Orthopaedic Hospital of Speising, Vienna, AUSTRIA;
Swiss Med Wkly. 2013 Dec 6;143:w13904. doi: 10.4414/smw.2013.13904. eCollection 2013.
X-linked hypophosphataemic rickets is an X-linked dominant disorder that is secondary to renal phosphate-wasting. Genu varum and/or genu valgum have been described as the most common deformities in patients with hypophosphataemic rickets. Windswept deformity, which is valgus deformity in one knee and varus deformity in the other, was the most common deformity encountered in our department.
We collected seven patients who had phenotypic and genotypic features consistent with the diagnosis of X-linked hypophosphataemic rickets. All presented with windswept lower limb deformity. We discuss the phenotypic and genotypic correlation, and the surgical procedures applied. Surgical interventions were scheduled to correct the triad of appearance, function and biomechanics.
Re-alignment orthopaedic measures were applied to correct and to restore normal growth and development in these children. Post-operative measurements showed dramatic improvements in balance and gait.
The most common deformity seen in patients with hypophosphataemic rickets is gradual anetrolateral bowing of the femur combined with tibia vara. Windswept lower limb deformity was the most common angular deformity in our patients with hypophosphataemic rickets. Baseline skeletal surveys and genotypic characterisation were subject to close scrutiny and assessment, with the aim of proper diagnosis and treatment. Nevertheless, recurrence of deformity is a common sequel and younger patients have a higher risk for recurrence.
X 连锁低磷血症性佝偻病是一种 X 连锁显性遗传病，继发于肾脏磷丢失。膝内翻和/或膝外翻是低磷血症性佝偻病患者最常见的畸形。在我们科室，最常见的畸形是“风摆样”畸形，即一侧膝关节外翻，另一侧膝关节内翻。
我们收集了 7 名具有 X 连锁低磷血症性佝偻病表型和基因型特征的患者。所有患者均表现为“风摆样”下肢畸形。我们讨论了表型和基因型的相关性，并介绍了所应用的手术方法。手术干预旨在矫正外观、功能和生物力学三联征。
矫形骨科措施的应用纠正了这些儿童的畸形，并恢复了其正常的生长发育。术后测量显示平衡和步态有明显改善。
低磷血症性佝偻病患者最常见的畸形是股骨逐渐向外侧和前侧弯曲，同时伴胫骨内翻。“风摆样”下肢畸形是我们的低磷血症性佝偻病患者中最常见的角度畸形。基线骨骼检查和基因型特征需要仔细检查和评估，以进行正确的诊断和治疗。然而，畸形复发是常见的后遗症，年轻患者的复发风险更高。
