Skip to main content

Fibular Hemimelia

  • Reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling
  • 116 Accesses

Abstract

Fibular hemimelia is a rare congenital malformation of the lower limbs. It is also the most common congenital long bone deficiency and occurs more frequently than congenital anomalies of the radial, femoral, and tibial bones (Boakes et al. 1991). Fibular hemimelia syndrome includes a wide range of disorders, from an isolated shortening of the fibula up to its complete deficiency, with associated deformities of the foot, shin, and thigh (Oberc and Sulko 2013). The incidence is 7.4–20 per 1,000,000 live births (Rogala et al. 1974; Froster and Baird 1993).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

References

  • Abel, D. E., Hertzberg, B. S., & James, A. H. (2002). Antenatal sonographic diagnosis of isolated bilateral fibular hemimelia. Journal of Ultrasound in Medicine, 21, 811–815.

    Article  PubMed  Google Scholar 

  • Achterman, C., & Kalamchi, A. (1979). Congenital deficiency of the fibula. Journal of Bone and Joint Surgery (British), 61-B, 133–137.

    CAS  Google Scholar 

  • Birch, J. G., Lincoln, T. L., Mack, P. W., & Birch, C. M. (2011). Congenital fibular deficiency: A review of thirty years’ experience at one institution and a proposed classification system based on clinical deformity. Journal of Bone and Joint Surgery (American), 93, 1144–1151.

    Article  Google Scholar 

  • Boakes, J. L., Stevens, P. M., & Moseley, R. F. (1991). Treatment of genu valgus deformity in congenital absence of the fibula. Journal of Pediatric Orthopedics, 11, 721–724.

    Article  CAS  PubMed  Google Scholar 

  • Courtens, W., Jespers, A., Harrewijn, I., et al. (2005). Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: A case report and review of the literature. American Journal of Medical Genetics A, 134, 321–325.

    Article  Google Scholar 

  • Coventry, M. B., & Johnson, E. W., Jr. (1952). Congenital absence of the fibula. Journal of Bone and Joint Surgery (American), 34, 941–955.

    Article  Google Scholar 

  • Ekbote, A. V., & Danda, S. (2012). Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Foot and Ankle Specialist, 5, 37–40.

    Article  PubMed  Google Scholar 

  • Froster, U. G., & Baird, P. A. (1993). Congenital defects of lower limbs and associated malformations: A population base study. American Journal of Medical Genetics, 45, 60–64.

    Article  CAS  PubMed  Google Scholar 

  • Gieruszczak-Bialek, D., Oldak, M., Skorka, A., et al. (2006). Fibular aplasia with Ectrodactyly-broadening the clinical spectrum. European Journal of Medical Genetics, 49, 83–86.

    Article  CAS  PubMed  Google Scholar 

  • Huda, S., Sangster, G., Pramanik, A., et al. (2014). Hemimelia and absence of the peroneal artery. Journal of Perinatology, 34, 156–158.

    Article  CAS  PubMed  Google Scholar 

  • Lewin, S. O., & Opitz, J. M. (1986). Fibular a/hypoplasia: Review and documentation of the fibular developmental field. American Journal of Medical Genetics, 2(Suppl), 215–238.

    Article  CAS  PubMed  Google Scholar 

  • Monteagudo, A., Dong, R., & Timor-Tritsch, H. E. (2006). Fetal fibular hemimelia. Case report and review of the literature. Journal of Ultrasound in Medicine, 25, 533–537.

    Article  PubMed  Google Scholar 

  • Oberc, A., & Sulko, J. (2013). Fibular hemimelia – Diagnostic management, principles, and results of treatment. Journal of Pediatric Orthopaedics B, 22, 450–456.

    Article  Google Scholar 

  • Rogala, E. J., Wynne-Davies, R., Littlefohn, A., et al. (1974). Congenital limb anomalies: Frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964–68). Journal of Medical Genetics, 11, 221–233.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Fibular Hemimelia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_259

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_259

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics