Abstract
Introduction
Surgical lengthening and angular correction of the limbs are an option for treating the orthopedic clinical manifestations in patients with achondroplasia. This study assesses a staged limb lengthening protocol, performing simultaneous bilateral lengthening of the femur and tibia (stage I [S1]), and humeral lengthening (stage II [S2]).
Materials and methods
Twenty-one achondroplastic patients were included in this study, and 106 segments (34 femurs, 34 tibias and 38 humeri) were lengthened. Achondroplasia patients with a growth curve below the mean of the standard growth curves for achondroplasia were included in S1. The remaining patients were included directly in S2. Variables analyzed included anthropometric measurements, lengthening outcomes, difficulties, and functionality.
Results
Of the all patients included in the protocol, 15 patients completed S1 and S2, 4 only completed S2, and 2 only completed S1. Height and limb–trunk ratio before S1 were 107.65 ± 7.14 cm and 1.89 ± 0.10 and after S1 were 126.50 ± 9.19 cm and 1.64 ± 0.09, respectively. Limbs were lengthened 14.43 ± 1.41 cm (femurs and tibias) for S1 and 9.95 ± 0.60 cm for S2 (humeri), with a stage healing index of 18.23 ± 3.54 in S1 and 28.92 ± 4.42 in S2. Correction of lower angular deviations, functional improvement, and a controlled complications rate were achieved in all patients.
Conclusions
The limb lengthening protocol proposed in this study is a suitable treatment for achondroplasia patients to achieve the agreed-upon objectives (limb–trunk ratio, improved functionality, and lower limb alignment). The reproducibility of the procedure and patient safety were upheld.
Similar content being viewed by others
References
Pauli RM (2019) Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. https://doi.org/10.1186/s13023-018-0972-6
Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mohnike K, Hagenäs L (2018) Development of body proportions in achondroplasia: sitting height, leg length, arm span, and foot length. Am J Med Genet A 176:1819–1929
Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG (1978) Standard growth curves for achondroplasia. J Pediatr 93:435–438
Hoover-Fong J, McGready J, Schulze K, Alade AY, Scott C (2017) A height-for-age growth reference for children with achondroplasia: expanded applications and comparison with original reference data. Am J Med Genet 173:1226–1230
Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mäkitie O, Mohnike K, Hagenäs L (2018) Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort. Am J Med Genet A 176:1723–1734
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD (2016) Achondroplasia: really rhizomelic? Am J Med Genet A 170:2039–2043
Unger S, Bonafé L, Gouze E (2017) Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep 15:53–60
Kim SJ, Pierce W, Sabharwal S (2014) The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients. Acta Orthop 85:181–186
Vaidya SV, Song HR, Lee SH, Suh SW, Keny SM, Telang SS (2006) Bifocal tibial corrective osteotomy with lengthening in achondroplasia: an analysis of results and complications. J Pediatr Orthop 26:788–793
Ko KR, Shim JS, Chung CH, Kim JH (2019) Surgical results of limb lengthening at the femur, tibia, and humerus in patients with achondroplasia. CiOS Clin Orthop Surg 11(2):226–232. https://doi.org/10.4055/cios.2019.11.2.226
Donaldson J, Aftab S, Bradish C (2015) Achondroplasia and limb lengthening: results in a UK cohort and review of the literature. J Orthop 12(1):31–34. https://doi.org/10.1016/j.jor.2015.01.001
Burghardt RD, Yoshino K, Kashiwagi N, Yoshino S, Bhave A, Paley D, Herzenberg JE (2015) Bilateral double level tibial lengthening in dwarfism. J Orthop 12:242–247
Schiedel F, Rödl R (2012) Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years. Disabil Rehabil 34:982–987
Kocaoglu M, Bilen FE, Dikmen G, Balchi HI, Eralp L (2014) Simultaneous bilateral lengthening of femora and tibiae in achondroplastic patients. Act Orthop Traumatol Turc 48:157–163
Ilizarov GA (1990) Clinical application of the tension-stress effect for limb lengthening. Clin Orthop Relat Res 250:8–26
Prader A, Largo RH, Molinari L, Issler C (1989) Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl 52:1–125
Paley D, Herzenberg JE, Tetsworth K, McKie J, Bhave A (1994) Deformity planning for frontal and sagital plane corrective osteotomies. Orthop Clin North Am 25:425–465
Paley D (1990) Problems, obstacles, and complications of limb lengthening by the Ilizarov technique. Clin Orthop Relat Res 250:81–104
Shadi M, Musielak B, Koczewski P, Janusz P (2018) Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety. Int Orthop 42:419–426
Ginebreda I, Campillo-Recio D, Cárdenas C, Tapiolas J, Rovira P, Isart A (2018) Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience. Musculoskelet Surg. https://doi.org/10.1007/s12306-018-0583-3
Matsushita M, Kitoh H, Mishima K, Yamashita S, Haga N, Fujiwara S, Ozono K, Kubota T, Kitaoka T, Ishiguro N (2019) Physical, mental, and social problems of adolescent and adult patients with achondroplasia. Calcif Tissue Int 104:364–372
Ireland PJ, Ware RS, Donaghey S, McGill J, Zankl Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM (2013) The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health 49:e122–e127
Song SH, Kim SE, Agashe MV, Lee H, Refai MA, Park YE et al (2012) Growth disturbance after lengthening of the lower limb and quantitative assessment of physeal closure in skeletally immature patients with achondroplasia. J Bone Joint Surg Ser B 94(B4):556–563. https://doi.org/10.1302/0301-620X.94B4.28375
Venkatesh KP, Modi HN, Devmurari K, Yoon JY, Anupama BR, Song HR (2009) Femoral lengthening in achondroplasia: magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture. Journal of Bone and Joint Surgery Series B 91(12):1612–1617. https://doi.org/10.1302/0301-620X.91B12.22418
Horn J, Hvid I, Huhnstock S, Breen AB, Steen H (2019) Limb lengthening and deformity correction with externally controlled motorized intramedullary nails: evaluation of 50 consecutive lengthenings. Acta Orthop 90(1):81–87. https://doi.org/10.1080/17453674.2018.1534321
Bloemeke J, Sommer R, Witt S, Bullinger M, Nordon C, Badia FJ et al (2019) Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia. Qual Life Res. https://doi.org/10.1007/s11136-019-02210-z
Acknowledgements
We thank the ALPE Achondroplasia Foundation (Gijón, Spain), especially to Carmen Alonso and Susana Noval, for its valuable collaboration on patient coordination and support activities throughout the standardized protocol. We thank Belén Pimentel from the AME Unit at IBIMA_FIMABIS for critical reading of the manuscript. We thank Biostatech Advice Training & Innovation in Biostatistics, S.L for statistical review.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
No author has commercial associations that might pose a conflict of interest in connection with the submitted article. This was an independent study. The contracts of the clinicians and the public resources used in the study were funded by the Andalusian Public Health Service, Regional Ministry of Health in Andalucía, Spain, and by the corresponding Regional Ministry of Health for each patient from outside of Andalusia, supported by the National Public Health Service of Spain.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Electronic supplementary material
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Leiva-Gea, A., Delgado-Rufino, F.B., Queipo-de-Llano, A. et al. Staged upper and lower limb lengthening performing bilateral simultaneous surgery of the femur and tibia in achondroplastic patients. Arch Orthop Trauma Surg 140, 1665–1676 (2020). https://doi.org/10.1007/s00402-020-03360-3
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00402-020-03360-3