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The Lower Extremity: Congenital and Developmental Conditions

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Abstract

This chapter first discusses normal variants in the knee and lower leg, covering topics such as distal femoral epiphyseal ossification variants, benign cortical defects, cortical desmoids, tibial tuberosity development, and growth recovery lines. Variants of the fabella, patella, and patellofemoral articulation are discussed, as well as both congenital and developmental patellar instability. The chapter then presents congenital limb anomalies such as femoral bifurcation and duplication, longitudinal deficiency of the tibia, and longitudinal deficiency of the fibula. Bowing and alignment disorders follow, with sections on various forms of tibial and fibular bowing, and knee dislocation and hyperextension. Discussion of aberrant alignment includes physiological bowing, infantile tibia vara, rickets, genu valgum, and long bone rotational abnormalities. The chapter concludes with a discussion of leg-length discrepancy.

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References

  1. Ogden JA. Radiology of postnatal skeletal development. X. Patella and tibial tuberosity. Skeletal Radiol. 1984;11(4):246–57. PubMed PMID: 6729496. Epub 1984/01/01. eng.

    Article  CAS  PubMed  Google Scholar 

  2. Varich LJ, Laor T, Jaramillo D. Normal maturation of the distal femoral epiphyseal cartilage: age-related changes at MR imaging. Radiology. 2000;​214(3):705–9. PubMed PMID: 10715034. Epub 2000/03/14. eng.

    Article  CAS  PubMed  Google Scholar 

  3. Ritschl P, Hajek PC, Pechmann U. Fibrous metaphyseal defects. Magnetic resonance imaging appearances. Skeletal Radiol. 1989;18(4):253–9. PubMed PMID: 2781323. Epub 1989/01/01. eng.

    Article  CAS  PubMed  Google Scholar 

  4. Pai DR, Strouse PJ. MRI of the pediatric knee. AJR Am J Roentgenol. 2011;196(5):1019–27. PubMed PMID: 21512066. Epub 2011/04/23. eng.

    Article  PubMed  Google Scholar 

  5. Shimal A, Davies AM, James SL, Grimer RJ. Fatigue-type stress fractures of the lower limb associated with fibrous cortical defects/non-ossifying fibromas in the skeletally immature. Clin Radiol. 2010;65(5):382–6. PubMed PMID: 20380937. Epub 2010/04/13. eng.

    Article  CAS  PubMed  Google Scholar 

  6. Steinmetz JC, Pilon VA, Lee JK. Jaffe-Campanacci syndrome. J Pediatr Orthop. 1988;8(5):602–4. PubMed PMID: 3139710. Epub 1988/09/01.

    Article  CAS  PubMed  Google Scholar 

  7. Laor T, Chun GF, Dardzinski BJ, Bean JA, Witte DP. Posterior distal femoral and proximal tibial metaphyseal stripes at MR imaging in children and young adults. Radiology. 2002;224(3):669–74. PubMed PMID: 12202698. Epub 2002/08/31. eng.

    Article  PubMed  Google Scholar 

  8. Simon H. Medial distal metaphyseal femoral irregularity in children. Radiology. 1968;90(2):258–60.

    Article  Google Scholar 

  9. Vieira RL, Bencardino JT, Rosenberg ZS, Nomikos G. MRI features of cortical desmoid in acute knee trauma. AJR Am J Roentgenol. 2011;196(2):424–8. PubMed PMID: 21257896. Epub 2011/01/25. eng.

    Article  PubMed  Google Scholar 

  10. Resnick D, Greenway G. Distal femoral cortical defects, irregularities, and excavations. Radiology. 1982;143(2):345–54. PubMed PMID: 7041169. Epub 1982/05/01. eng.

    Article  CAS  PubMed  Google Scholar 

  11. Boyer RS, Jaffe RB, Nixon GW, Condon VR. Trampoline fracture of the proximal tibia in children. AJR Am J Roentgenol. 1986;146(1):83–5. PubMed PMID: 3484416. Epub 1986/01/01. eng.

    Article  CAS  PubMed  Google Scholar 

  12. Weiner D, Macnab I, Turner M. The Fabella syndrome. Clin Orthop Relat Res. 1977;126:213–5. PubMed PMID: 598120. Epub 1977/07/01. eng.

    PubMed  Google Scholar 

  13. Weiner DS, Macnab I. The “fabella syndrome”: an update. J Pediatr Orthop. 1982;2(4):405–8. PubMed PMID: 6815224. Epub 1982/10/01. eng.

    Article  CAS  PubMed  Google Scholar 

  14. Lawson JP. Symptomatic radiographic variants in extremities. Radiology. 1985;157(3):625–31. PubMed PMID: 4059550. Epub 1985/12/01. eng.

    Article  CAS  PubMed  Google Scholar 

  15. Bates DG, Hresko MT, Jaramillo D. Patellar sleeve fracture: demonstration with MR imaging. Radiology. 1994;193(3):825–7. PubMed PMID: 7972832. Epub 1994/12/01. eng.

    Article  CAS  PubMed  Google Scholar 

  16. Duncan JG, Souter WA. Hereditary onycho-osteodysplasia: the nail-patella syndrome. J Bone Joint Surg. 1963;45(2):242–58.

    Google Scholar 

  17. Wada A, Fujii T, Takamura K, Yanagida H, Surijamorn P. Congenital dislocation of the patella. J Child Orthop. 2008;2(2):119–23. PubMed PMID: 19308591. Pubmed Central PMCID: 2656798.

    Article  PubMed Central  PubMed  Google Scholar 

  18. Koplewitz BZ, Babyn PS, Cole WG. Congenital dislocation of the patella. AJR Am J Roentgenol. 2005;184(5):1640–6. PubMed PMID: 15855131. Epub 2005/04/28. eng.

    Article  PubMed  Google Scholar 

  19. Nietosvaara Y, Aalto K, Kallio PE. Acute patellar dislocation in children: incidence and associated osteochondral fractures. J Pediatr Orthop. 1994;14(4):513–5. PubMed PMID: 8077438.

    Article  CAS  PubMed  Google Scholar 

  20. Diederichs G, Issever AS, Scheffler S. MR imaging of patellar instability: injury patterns and assessment of risk factors. Radiographics. 2010;30(4):961–81. PubMed PMID: 20631363.

    Article  PubMed  Google Scholar 

  21. Stefanik JJ, Zumwalt AC, Segal NA, Lynch JA, Powers CM. Association between measures of patella height, morphologic features of the trochlea, and patellofemoral joint alignment: the MOST study. Clin Orthop Relat Res. 2013;471(8):2641–8. PubMed PMID: 23546847. Pubmed Central PMCID: 3705075. Epub 2013/04/03. eng.

    Article  PubMed Central  PubMed  Google Scholar 

  22. Koshino T, Sugimoto K. New measurement of patellar height in the knees of children using the epiphyseal line midpoint. J Pediatr Orthop. 1989;9(2):216–8. PubMed PMID: 2925858.

    CAS  PubMed  Google Scholar 

  23. Insall J, Salvati E. Patella position in the normal knee joint. Radiology. 1971;101(1):101–4. PubMed PMID: 5111961.

    Article  CAS  PubMed  Google Scholar 

  24. Jacobsen K, Bertheussen K. The vertical location of the patella. Fundamental views on the concept patella alta, using a normal sample. Acta Orthop Scand. 1974;45(3):436–45.

    Article  CAS  PubMed  Google Scholar 

  25. Carrillon Y, Abidi H, Dejour D, Fantino O, Moyen B, Tran-Minh VA. Patellar instability: assessment on MR images by measuring the lateral trochlear inclination-initial experience. Radiology. 2000;216(2):​582–5. PubMed PMID: 10924589.

    Article  CAS  PubMed  Google Scholar 

  26. Ali SA, Helmer R, Terk MR. Analysis of the patellofemoral region on MRI: association of abnormal trochlear morphology with severe cartilage defects. AJR Am J Roentgenol. 2010;194(3):721–7. PubMed PMID: 20173151. Epub 2010/02/23. eng.

    Article  PubMed  Google Scholar 

  27. Pfirrmann CW, Zanetti M, Romero J, Hodler J. Femoral trochlear dysplasia: MR findings. Radiology. 2000;216(3):858–64. PubMed PMID: 10966723. Epub 2000/08/31. eng.

    Article  CAS  PubMed  Google Scholar 

  28. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–64. PubMed PMID: 20824455. Epub 2010/09/09. eng.

    Article  PubMed  Google Scholar 

  29. Henkel L, Willert HG. Dysmelia. A classification and a pattern of malformation in a group of congenital defects of the limbs. J Bone Joint Surg. 1969;​51(3):399–414. PubMed PMID: 5820783. Epub 1969/08/01. eng.

    CAS  Google Scholar 

  30. Kmita M, Tarchini B, Zakany J, Logan M, Tabin CJ, Duboule D. Early developmental arrest of mammalian limbs lacking HoxA/HoxD gene function. Nature. 2005;435(7045):1113–6. PubMed PMID: 15973411. Epub 2005/06/24. eng.

    Article  CAS  PubMed  Google Scholar 

  31. Day HJ. The ISO/ISPO classification of congenital limb deficiency. Prosthet Orthot Int. 1991;15(2):67–9. PubMed PMID: 1923724. Epub 1991/08/01. eng.

    PubMed  Google Scholar 

  32. Wolfgang GL. Complex congenital anomalies of the lower extremities: femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature. J Bone Joint Surg Am. 1984;66(3):453–8. PubMed PMID: 6699064.

    CAS  PubMed  Google Scholar 

  33. Jones D, Barnes J, Lloyd-Roberts GC. Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management. J Bone Joint Surg. 1978;60(1):31–9. PubMed PMID: 627576.

    CAS  Google Scholar 

  34. Kalamchi A, Dawe RV. Congenital deficiency of the tibia. J Bone Joint Surg. 1985;67(4):581–4. PubMed PMID: 4030854.

    CAS  Google Scholar 

  35. Weber M. New classification and score for tibial hemimelia. J Child Orthop. 2008;2(3):169–75. PubMed PMID: 19308574. Pubmed Central PMCID: 2656800.

    Article  PubMed Central  PubMed  Google Scholar 

  36. Stanitski DF, Stanitski CL. Fibular hemimelia: a new classification system. J Pediatr Orthop. 2003;23(1):30–4. PubMed PMID: 12499939. Epub 2002/12/25. eng.

    PubMed  Google Scholar 

  37. Stevens PM, Arms D. Postaxial hypoplasia of the lower extremity. J Pediatr Orthop. 2000;20(2):166–72. PubMed PMID: 10739276. Epub 2000/03/30. eng.

    CAS  PubMed  Google Scholar 

  38. Achterman C, Kalamchi A. Congenital deficiency of the fibula. J Bone Joint Surg. 1979;61-B(2):133–7. PubMed PMID: 438260.

    CAS  Google Scholar 

  39. Kruger LM, Talbott RD. Amputation and prosthesis as definitive treatment in congenital absence of the fibula. J Bone Joint Surg Am. 1961;43-A:625–42. PubMed PMID: 13831084.

    CAS  PubMed  Google Scholar 

  40. Hootnick D, Boyd NA, Fixsen JA, Lloyd-Roberts GC. The natural history and management of congenital short tibia with dysplasia or absence of the fibula. J Bone Joint Surg. 1977;59(3):267–71. PubMed PMID: 893503.

    CAS  Google Scholar 

  41. Birch JG, Lincoln TL, Mack PW, Birch CM. Congenital fibular deficiency: a review of thirty years’ experience at one institution and a proposed classification system based on clinical deformity. J Bone Joint Surg Am. 2011;93(12):1144–51. PubMed PMID: 21776551. Epub 2011/07/22. eng.

    Article  PubMed  Google Scholar 

  42. Fordham LA, Applegate KE, Wilkes DC, Chung CJ. Fibular hemimelia: more than just an absent bone. Semin Musculoskelet Radiol. 1999;3(3):227–38. PubMed PMID: 11387140.

    Article  PubMed  Google Scholar 

  43. Johnston CE, Birch JG. A tale of two tibias: a review of treatment options for congenital pseudarthrosis of the tibia. J Child Orthop. 2008;2(2):133–49. PubMed PMID: 19308593. Pubmed Central PMCID: 2656794.

    Article  PubMed Central  PubMed  Google Scholar 

  44. Vander Have KL, Hensinger RN, Caird M, Johnston C, Farley FA. Congenital pseudarthrosis of the tibia. J Am Acad Orthop Surg. 2008;16(4):228–36. PubMed PMID: 18390485.

    PubMed  Google Scholar 

  45. Richards BS, Oetgen ME, Johnston CE. The use of rhBMP-2 for the treatment of congenital pseudarthrosis of the tibia: a case series. J Bone Joint Surg Am. 2010;92(1):177–85. PubMed PMID: 20048110. Epub 2010/01/06. eng.

    Article  PubMed  Google Scholar 

  46. Lehman WB, Abdelgawad AA, Sala DA. Congenital tibial dysplasia (congenital pseudoarthrosis of the tibia): an atypical variation. J Pediatr Orthop Part B. 2009;18(5):211–3. PubMed PMID: 19625879.

    Article  Google Scholar 

  47. Ooishi T, Sugioka Y, Matsumoto S, Fujii T. Congenital dislocation of the knee. Its pathologic features and treatment. Clin Orthop Relat Res. 1993;287:187–92. PubMed PMID: 8448939.

    PubMed  Google Scholar 

  48. Klingele KE, Stephens S. Management of ACL elongation in the surgical treatment of congenital knee dislocation. Orthopedics. 2012;35(7):e1094–8. PubMed PMID: 22784907.

    Article  PubMed  Google Scholar 

  49. Salenius P, Vankka E. The development of the tibiofemoral angle in children. J Bone Joint Surg Am. 1975;57(2):259–61. PubMed PMID: 1112851.

    CAS  PubMed  Google Scholar 

  50. Levine AM, Drennan JC. Physiological bowing and tibia vara. The metaphyseal-diaphyseal angle in the measurement of bowleg deformities. J Bone Joint Surg Am. 1982;64(8):1158–63. PubMed PMID: 7130229. Epub 1982/10/01. eng.

    CAS  PubMed  Google Scholar 

  51. Cheema JI, Grissom LE, Harcke HT. Radiographic characteristics of lower-extremity bowing in children. Radiographics. 2003;23(4):871–80. PubMed PMID: 12853662. Epub 2003/07/11. eng.

    Article  PubMed  Google Scholar 

  52. Langenskiold A. Tibia vara. A critical review. Clin Orthop Relat Res. 1989;246:195–207. PubMed PMID: 2670387. Epub 1989/09/01. eng.

    PubMed  Google Scholar 

  53. Ho-Fung V, Jaimes C, Delgado J, Davidson RS, Jaramillo D. MRI evaluation of the knee in children with infantile Blount disease: tibial and extra-tibial findings. Pediatr Radiol. 2013;43(10):1316–26. PubMed PMID: 23615630. Epub 2013/04/26. eng.

    Article  PubMed  Google Scholar 

  54. Craig JG, van Holsbeeck M, Zaltz I. The utility of MR in assessing Blount disease. Skeletal Radiol. 2002;31(4):208–13. PubMed PMID: 11904688. Epub 2002/03/21. eng.

    Article  PubMed  Google Scholar 

  55. Shore RM, Chesney RW. Rickets: part I. Pediatr Radiol. 2013;43(2):140–51. PubMed PMID: 23208530. Epub 2012/12/05. eng.

    Article  PubMed  Google Scholar 

  56. Shore RM, Chesney RW. Rickets: part II. Pediatr Radiol. 2013;43(2):152–72. PubMed PMID: 23179485. Epub 2012/11/28. eng.

    Article  PubMed  Google Scholar 

  57. Al Kaissi A, Farr S, Ganger R, Klaushofer K, Grill F. Windswept lower limb deformities in patients with hypophosphataemic rickets. Swiss Med Wkly. 2013;143:w13904. PubMed PMID: 24318043. Epub 2013/12/10. eng.

    PubMed  Google Scholar 

  58. Cozen L. Knock-knee deformity in children. Congenital and acquired. Clin Orthop Relat Res. 1990;258:191–203. PubMed PMID: 2203569.

    PubMed  Google Scholar 

  59. Stevens PM. Guided growth for angular correction: a preliminary series using a tension band plate. J Pediatr Orthop. 2007;27(3):253–9. PubMed PMID: 17414005.

    Article  PubMed  Google Scholar 

  60. Staheli LT. Lower positional deformity in infants and children: a review. J Pediatr Orthop. 1990;10(4):559–63. PubMed PMID: 2193037.

    Article  CAS  PubMed  Google Scholar 

  61. Ritter MA, DeRosa GP, Babcock JL. Tibial torsion? Clin Orthop Relat Res. 1976;120:159–63. PubMed PMID: 975652.

    PubMed  Google Scholar 

  62. Bruce WD, Stevens PM. Surgical correction of miserable malalignment syndrome. J Pediatr Orthop. 2004;24(4):392–6. PubMed PMID: 15205621. Epub 2004/06/19. eng.

    Article  PubMed  Google Scholar 

  63. Koenig JK, Pring ME, Dwek JR. MR evaluation of femoral neck version and tibial torsion. Pediatr Radiol. 2012;42(1):113–5. PubMed PMID: 21842328.

    Article  PubMed  Google Scholar 

  64. Wybier M, Bossard P. Musculoskeletal imaging in progress: the EOS imaging system. Joint Bone Spine Rev Rhum. 2013;80(3):238–43. PubMed PMID: 23177915.

    Article  Google Scholar 

  65. Paley D, Bhave A, Herzenberg JE, Bowen JR. Multiplier method for predicting limb-length discrepancy. J Bone Joint Surg Am. 2000;82-A(10):1432–46. PubMed PMID: 11057472. Epub 2000/11/01. eng.

    CAS  PubMed  Google Scholar 

  66. Moseley CF. A straight-line graph for leg-length discrepancies. J Bone Joint Surg Am. 1977;59(2):174–9. PubMed PMID: 845200.

    CAS  PubMed  Google Scholar 

  67. Sabharwal S, Kumar A. Methods for assessing leg length discrepancy. Clin Orthop Relat Res. 2008;466(12):2910–22. PubMed PMID: 18836788. Pubmed Central PMCID: 2628227.

    Article  PubMed Central  PubMed  Google Scholar 

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Prince, J.S. (2015). The Lower Extremity: Congenital and Developmental Conditions. In: Stein-Wexler, R., Wootton-Gorges, S., Ozonoff, M. (eds) Pediatric Orthopedic Imaging. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-45381-6_13

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