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).
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.
Achterman, C., & Kalamchi, A. (1979). Congenital deficiency of the fibula. Journal of Bone and Joint Surgery (British), 61-B, 133–137.
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.
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.
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.
Coventry, M. B., & Johnson, E. W., Jr. (1952). Congenital absence of the fibula. Journal of Bone and Joint Surgery (American), 34, 941–955.
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.
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.
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.
Huda, S., Sangster, G., Pramanik, A., et al. (2014). Hemimelia and absence of the peroneal artery. Journal of Perinatology, 34, 156–158.
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.
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.
Oberc, A., & Sulko, J. (2013). Fibular hemimelia – Diagnostic management, principles, and results of treatment. Journal of Pediatric Orthopaedics B, 22, 450–456.
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.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this entry
Cite this entry
Chen, H. (2015). Fibular Hemimelia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_259-2
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6430-3_259-2
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Online ISBN: 978-1-4614-6430-3
eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences
Publish with us
Chapter history
-
Latest
Fibular Hemimelia- Published:
- 23 May 2015
DOI: https://doi.org/10.1007/978-1-4614-6430-3_259-2
-
Original
Fibular Hemimelia- Published:
- 05 February 2015
DOI: https://doi.org/10.1007/978-1-4614-6430-3_259-1