Pediatric Radiology

, Volume 47, Issue 4, pp 473–483 | Cite as

Systematic radiographic evaluation of tibial hemimelia with orthopedic implications

  • Katia Kaplan-ListEmail author
  • Nina B. Klionsky
  • James O. Sanders
  • Michael E. Katz
Pictorial Essay


Tibial hemimelia is a rare lower-extremity pre-axial longitudinal deficiency characterized by complete or partial absence of the tibia. The reported incidence is 1 in 1 million live births. In this pictorial essay, we define tibial hemimelia and describe associated conditions and principles of preoperative imaging assessment for a child with tibial hemimelia. We also indicate the imaging findings that might influence the choice of treatment, describe the most widely used classification systems, and briefly discuss current treatment approaches.


Children Congenital limb deficiency Jones classification Lower extremity Magnetic resonance imaging Paley classification Radiography Tibia Tibial hemimelia Weber classification 



We thank the Gillaspy family, Dr. Dror Paley from the Paley Institute, St. Mary’s Hospital, West Palm Beach, FL, and Dr. Phillip Katzman and the Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY.

Compliance with ethical standards

Conflicts of interest

Dr. Sanders discloses the following: stockholder with Abbott Laboratories, GE and AbbVie. Dr. Kaplan-List, Dr. Klionsky and Dr. Katz have no disclosures.

Supplementary material

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  1. 1.
    Brown FW (1969) The Brown operation for total hemimelia tibia. In: Aitken GT (ed) Selected lower-limb anomalies: surgical and prosthetics management. National Academy of Sciences, Washington, DC, pp 20–28Google Scholar
  2. 2.
    Weber M, Schröder S, Berdel P et al (2005) Register zur bundesweiten Erfassung angeborener Gliedmaßenfehlbildungen [Database for the nationwide collection of congenital limb malformations]. Z Orthop 143:1–5CrossRefGoogle Scholar
  3. 3.
    Sabharwal S (2016) Pediatric lower limb deformities: principles and techniques of management. Springer, Cham,SwitzerlandGoogle Scholar
  4. 4.
    Myers TH (1905) Congenital absence of tibia: transplantation of head of fibula: arthrodesis at the ankle-joint. Am J Orthop Surg 23:72–85Google Scholar
  5. 5.
    Myers TH (1910) Further report on a case of congenital absence of the tibia. Am J Orthop Surg 28:398–400Google Scholar
  6. 6.
    Rumack CM, Wilson SR, Charboneau JW, Levine D. Diagnostic Ultrasound, 4th Edition. Elsevier-Mosby, Philadelphia, p 639–707Google Scholar
  7. 7.
    Goldstein I, Lockwood C, Belanger K et al (1988) Ultrasonographic assessment of gestational age with the distal femoral and proximal tibial ossification centers in the third trimester. Am J Obstet Gynecol 158:127–130CrossRefPubMedGoogle Scholar
  8. 8.
    Serman LS, Potter SS, Scott WJ (2002) In: Larsen WJ (ed) Human embryology, 3rd ed. Churchill Livingstone, New York, p 315–328, 335–342Google Scholar
  9. 9.
    Pyle SI, Hoerr NL (1969) A radiographic standard of reference for the growing knee. Charles C. Thomas, Springfield, Ill. Google Scholar
  10. 10.
    Online Mendelian inheritance in man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 228250:1/14/2011. World Wide Web URL:
  11. 11.
    Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 150230: 12/12/2013. World Wide Web URL:
  12. 12.
    Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 174500: 06/03/2011. World Wide Web URL:
  13. 13.
    Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 188770: 01/13/2011. World Wide Web URL:
  14. 14.
    Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 119100: 12/14/2090. World Wide Web URL:
  15. 15.
    Herring JA (2013) Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. Elsevier Health Sciences, PhiladelphiaGoogle Scholar
  16. 16.
    Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 275220: 01/14/2011. World Wide Web URL:
  17. 17.
    Emami-Ahari Z, Mahloudji M (1974) Bilateral absence of the tibias in three sibs. Birth Defects Orig Artic Ser 10:197–200PubMedGoogle Scholar
  18. 18.
    Richieri-Costa A (1987) Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents. Am J Med Genet 28:325–329CrossRefPubMedGoogle Scholar
  19. 19.
    Richieri-Costa A, Ferrareto I, Masiero D et al (1987) Tibial hemimelia: report on 37 new cases, clinical and genetic considerations. Am J Med Genet 27:867–884CrossRefPubMedGoogle Scholar
  20. 20.
    Stevens CA, Moore CA (1999) Tibial hemimelia in Langer-Giedion syndrome — possible gene location for tibial hemimelia at 8q. Am J Med Genet 85:409–412CrossRefPubMedGoogle Scholar
  21. 21.
    McKay M, Clarren SK, Zorn R (1984) Isolated tibial hemimelia in sibs: an autosomal-recessive disorder? Am J Med Genet 17:603–607CrossRefPubMedGoogle Scholar
  22. 22.
    Turleau C, Chavin-Colin F, de Grouchy J et al (1982) Langer-Giedion syndrome with and without del 8q: assignment of critical segment to 8q23. Hum Genet 62:183–187CrossRefPubMedGoogle Scholar
  23. 23.
    Deimling S, Sotiropoulos C, Lau K et al (2016) Tibial hemimelia associated with GLI3 truncation. J Hum Genet 61:443–446CrossRefPubMedGoogle Scholar
  24. 24.
    McCredie J, Willert HG (1999) Longitudinal limb deficiencies and the sclerotomes. An analysis of 378 dysmelic malformations induced by thalidomide. J Bone Joint Surg (Br) 81:9–23CrossRefGoogle Scholar
  25. 25.
    Jones D, Barnes J, Lloyd-Roberts GC (1978) Congenital aplasia and dysplasia of the tibia with intact fibula: classification and management. J Bone Joint Surg (Br) 60:31–39CrossRefGoogle Scholar
  26. 26.
    Kalamchi A, Dawe RV (1985) Congenital deficiencies of the tibia. J Bone Joint Surg (Br) 67:581–584Google Scholar
  27. 27.
    Henkel HL, Willert HG, Gressmann C et al (1978) Eine internationale terminologie zur klassifikation angeborener gliedmaßenfehlbildungen. Empfehlungen einer Arbeitsgruppe der International Society for Prosthetics and Orthotics [An international terminology for the classification of congenital limb deficiencies. Recommendations of a working group of the International Society for Prosthetics and Orthotics. (Author’s trans)]. Arch Orthop Trauma Surg 93:1–19CrossRefPubMedGoogle Scholar
  28. 28.
    Pashayan H, Fraser FC, McIntyre JM et al (1971) Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter. J Bone Joint Surg (Br) 53:495–499Google Scholar
  29. 29.
    Clark MW (1975) Autosomal dominant inheritance of tibial meromelia: report of a kindred. J Bone Joint Surg Am 57:262–264CrossRefPubMedGoogle Scholar
  30. 30.
    Paley D, Robbins CA (2015) Tibial hemimelia Paley type 5a (Jones type 1b) and Paley type 5b (Jones type 1a). In: Limb lengthening and reconstruction surgery case atlas. Springer International Publishing, Cham, p 1–21Google Scholar
  31. 31.
    Paley D, Chong DY (2016) Tibial hemimelia, pediatric lower limb deformities, principles and techniques of management, chapter 24. Springer SBS, Berlin Heidelberg New York, pp 455–481Google Scholar
  32. 32.
    Paley D. (in press). Tibial hemimelia: new classification and reconstructive options. J Children’s OrthopGoogle Scholar
  33. 33.
    Weber M (2008) New classification and score for tibial hemimelia. J Child Orthop 2:169–175CrossRefPubMedPubMedCentralGoogle Scholar
  34. 34.
    Frantz CH, O’Rahilly R (1961) Congenital skeletal limb deficiencies. J Bone Joint Surg Am 43:1202–1224CrossRefGoogle Scholar
  35. 35.
    O’Rahilly R (1951) Morphologic patterns in limb deficiencies and duplications. Am J Anat 89:135–193CrossRefPubMedGoogle Scholar
  36. 36.
    Laor T, Jaramillo D, Hoffer FA et al (1996) MR imaging in congenital lower limb deformities. Pediatr Radiol 26:381–387CrossRefPubMedGoogle Scholar
  37. 37.
    Simmons ED Jr, Ginsburg GM, Hall JE (1996) Brown’s procedure for congenital absence of the tibia revisited. J Pediatr Orthop 16:85–89CrossRefPubMedGoogle Scholar
  38. 38.
    Balcı Hİ, Sağlam Y, Bilgili F et al (2015) Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia. Acta Orthop Traumatol Turc 49:627–633PubMedGoogle Scholar
  39. 39.
    Shahcheraghi GH, Javid M (2016) Functional assessment in tibial hemimelia (can we also save the foot in reconstruction?). J Pediatr Orthop 36:572–581CrossRefPubMedGoogle Scholar
  40. 40.
    Hootnick D, Boyd NA, Fixsen J et al (1977) The natural history and management of congenital short tibia with dysplasia or absence of the fibula. J Bone Joint Surg (Br) 59:267–271Google Scholar
  41. 41.
    Loder RT, Herring JA (1987) Fibular transfer for congenital absence of the tibia: a reassessment. J Pediatr Orthop 7:8–13CrossRefPubMedGoogle Scholar
  42. 42.
    Brown FW (1965) Construction of a knee joint in congenital total absence of the tibia (paraxial hemimelia tibia): a preliminary report. J Bone Joint Surg Am 47:695–704CrossRefPubMedGoogle Scholar
  43. 43.
    Ahmed H, Ahmed G (2003) Treatment of tibial hemimelia without amputation. J Bone Joint Surg (Br) 85:252–253Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Department of Diagnostic ImagingRochester General HospitalRochesterUSA
  2. 2.University of Rochester Medical Center, School of Medicine and DentistryRochesterUSA
  3. 3.Department of RadiologyGolisano Children’s HospitalRochesterUSA
  4. 4.Department of OrthopaedicsGolisano Children’s HospitalRochesterUSA
  5. 5.Department of PediatricsGolisano Children’s HospitalRochesterUSA
  6. 6.Department of RadiologySt. Mary’s Medical Center and Palm Beach Children’s HospitalWest Palm BeachUSA

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