Skip to main navigation menu Skip to main content Skip to site footer

Original article

Vol. 143 No. 4950 (2013)

Windswept lower limb deformities in patients with hypophosphataemic rickets

  • Ali Al Kaissi
  • Sebastian Farr
  • Rudolf Ganger
  • Klaus Klaushofer
  • Franz Grill
Cite this as:
Swiss Med Wkly. 2013;143:w13904


BACKGROUND: 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.

PATIENTS AND METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.


  1. Beals R, Horton W. Skeletal dysplasias: An approach to diagnosis. J Am Acad Orthop Surg. 1995;3:174–81.
  2. Balsan S, Tieder M. Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height. J Pediatr. 1990;116:365–71.
  3. Condon JR, Nassim JR, Rutter A. Pathogenesis of rickets and osteomalacia in familial hypophosphataemia. Arch Dis Child. 1971;46:269–72.
  4. Fishman G, Miller-Hansen D, Jacobsen C, Singhal VK, Alon US. Hearing impairment in familial X-linked hypophosphatemic rickets. Eur J Pediatr. 2004;163:622–3.
  5. Patzer L, Van’T Hoff W, Dillon MJ. X-linked hypophosphataemic rickets: recognition, treatment and prognosis. Curr Paediatr. 1998;8:26–30.
  6. Petje G, Meizer R, Radler C, Aigner N, Grill F. Deformity correction in children with hereditary hypophosphatemic rickets. Clin Orthop Relat Res. 2008;466(12):3078–85.
  7. Smyth EHJ. Windswept deformity. J Bone Joint SurgBr. 1980;62-B:166–7.
  8. Al Kaissi A, Ganger R, Klaushofer K, Grill F. Windswept deformity in a patient with Schwartz-Jampel syndrome. Swiss Med Wkly. 2012 Mar 19;142:w13519. doi: 10.4414/smw.2012.13519
  9. Fulford GE, Brown JK. Position as a cause of deformity in children with cerebral palsy. Dev Med Child Neurol. 1976;18:305–14.
  10. Golding JSR. Tibia vara. J Bone Joint Surg Br. 1962;44-B:216.
  11. Roetzer KM, Varga F, Zwettler E, Nawrot-Wawrzyniak K, Haller J, Forster E, Klaushofer K. Novel PHEX mutation associated with hypophosphatemic rickets. Nephron Physiol. 2007;106(1):p8–12.
  12. Sabbagh Y, Jones AO, Tenenhouse HS. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphataemia. Hum Mutat. 2000;16:1–6.
  13. Paley D, Herzenberg JE, Tetsworth K, McKie J, Bhave A. Deformity planing for frontal and sagittal plan corrective osteotomies. Orthop Clin North Am. 1994;25:425–46.
  14. Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br. 1985;67B:133–7.
  15. Seikaly M, Browne R, Baum M. Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. Pediatrics. 1996;97.
  16. Marie PJ, Glorieux FH. Stimulation of cortical bone mineralization and remodeling by phosphate and 1,25 dihydroxyvitamin D in vitamin D-resistant rickets. Metab Bone Dis Relat Res. 1981;3:159.
  17. Verge CF, Lam A, Simpson JM, et al. Effects of therapy in X-linked hypophosphataemic rickets. N Engl J Med. 1991;325:1843.
  18. Carpenter TO. New perspectives on the biology and treatment of X linked hypophosphatemic rickets. Pediatr Clin North Am. 1997;44:443–60.
  19. Miao D, Bai X, Dibyendu P, McKee MD, Karapalis AC, Goltzman D. 2001 Osteomalacia in Hyp mice is associated with abnormal Phex expression and with altered bone matrix protein. Endocrinology. 142:926–37.
  20. Brooks WC, Gross RH. Genu Varum in Children: Diagnosis and Treatment. J Am Acad Orthop Surg. 1995;3(6):326–35.
  21. White GR, Mencio GA. Genu Valgum in Children: Diagnostic and Therapeutic Alternatives. J Am Acad Orthop Surg. 1995;3(5):275–83.
  22. Manner HM, Huebl M, Radler C, Ganger R, Petje G, Grill F. Accuracy of complex lower-limb deformity correction with external fixation: a comparison of the Taylor Spatial Frame with the Ilizarov ring fixator. J Child Orthop. 2007;1(1):55–61.
  23. Stevens PM. Guided growth for angular correction: a preliminary series using a tension band plate. J Pediatr Orthop. 2007;27(3):253–9.
  24. Kanel JS, Price CT. Unilateral external fixation for corrective osteotomies in patients with hypophosphataemic rickets. J Pediatr Orthop. 1995;15:232.
  25. Ferris B, Walker C, Jackson A, et al. The orthopaedic management of hypophosphataemic rickets. J Pediatr Orthop. 1991;11:367.
  26. Rubinovitch M, Said SE, Glorieux FH, et al. Principles and results of corrective lower limb osteotomies for patients with vitamin-D- resistant hypophosphatemic rickets. Clin Orthop Relat Res. 1988;237:264.
  27. Loeffler RD Jr, Sherman FC. The effect of treatment on growth and deformity in hypophosphatemic vitamin D-resistant rickets. Clin Orthop Relat Res. 1982;162:4.
  28. Boero S, Michelis MB, Riganti S. Use of the eight-Plate for angular correction of knee deformities due to idiopathic and pathologic physis: initiating treatment according to etiology. J Child Orthop. 2011;5(3):209–16.
  29. Brunk M. The importance of rickets in childhood as a cause of scoliosis in adult age. Acta Orthop Scand Suppl. 1951;9:3–114.
  30. Katthagen A. Treatment of early rachitic scoliosis. Z Orthop Ihre Grenzgeb. 1951;81(3):460–5.
  31. Juskeliene V, Magnus P, Bakketeig LS, Dailidiene N, Jurkuvenas V. Prevalence and risk factors for asymmetric posture in preschool children aged 6–7 years. Int J Epidemiol. 1996;25(5):1053–9.
  32. Pehrsson K, Larsson S, Oden A, Nachemson A. Long-term follow-up of patients with untreated scoliosis. A study of mortality, causes of death, and symptoms. Spine (Phila Pa 1976). 1992;17(9):1091–6.
  33. Hensinger RN. Kyphosis secondary to skeletal dysplasias and metabolic disease. Clin Orthop Relat Res. 1977;(128):113–28.

Most read articles by the same author(s)