Fibular hemimelia

Fibular hemimelia
Other names: Longitudinal fibular deficiency
a, b) Paley type 3c fibular hemimelia
SpecialtyMedical genetics, orthopedics

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities."[1][2] It is the shortening of the fibula at birth, or the complete lack thereof. Fibular hemimelia often causes severe knee instability due to deficiencies of the ligaments. Severe forms of fibula hemimelia can result in a malformed ankle with limited motion and stability. Fusion or absence of two or more toes are also common.[3] In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments, which include repeated corrective osteotomies and leg-lengthening surgery (Ilizarov apparatus), are costly and associated with residual deformity.[4]

Signs and symptoms

Fibula Hemimelia in individual affecting right side

Characteristics are:

  • A fibrous band instead of the fibula
  • Short deformed leg
  • Absence of the lateral part of the ankle joint (due to absence of the distal end of the fibula), and what is left is unstable; the foot has an equinovalgus deformity
  • Possible absence of part of the foot requiring surgical intervention to bring the foot into normal function, or amputation.
  • Possible absence of one or two toes on the foot
  • Possible conjoined toes or metatarsals

Partial or total absence of fibula is among the most frequent limb anomalies. It is the most common long bone deficiency and is the most common skeletal deformity in the leg. It most often is unilateral (present only on one side). It may also present as bilateral (affecting both legs). Paraxial fibular hemimelia is the most common manifestation in which only the postaxial portion of the limb is affected. It is commonly seen as a complete terminal deficiency, where the lateral rays of the foot are also affected. Hemimelia can also be intercalary in which case the foot remains unaffected. Although the missing bone is easily identified, this condition is not simply a missing bone.[2] Males are affected twice as often as females in most series.[5]

Causes

The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.[6]

In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects.[7]

Diagnosis

X-ray image of fibular hemimelia type II

In terms of the diagnosis we find this is based on radiographic images and clinical exam[8]

Treatment

The management is as follows - limb lengthening combined with a correction of deformities at the foot and ankle via surgery [8]

Society and culture

Notable people

  • Aled Davies - Welsh Paralympic athlete
  • Jessica Long – American Paralympic swimmer
  • Barry McClements – Northern Irish Paralympic and Commonwealth Games swimmer
  • Liam Malone – New Zealand Paralympic athlete
  • Aimee Mullins – American Paralympic athlete, actress, and fashion model
  • Oscar Pistorius – Former South African athlete and convicted murderer
  • Long Jeanne Silver – American former pornographic actress
  • Erik Stolhanske – American actor, writer, director, producer
  • Hunter Woodhall – American Paralympic runner

See also

References

  1. ↑ Eze KC, Akhigbe AO, Awosanya GO (September 2007). "Fibular hemimelia: a case report". Nigerian Journal of Clinical Practice. 10 (3): 259–61. PMID 18072458.
  2. 1 2 Achterman C, Kalamchi A (May 1979). "Congenital deficiency of the fibula". The Journal of Bone and Joint Surgery. British Volume. 61-B (2): 133–7. doi:10.1302/0301-620X.61B2.438260. PMID 438260.
  3. ↑ Paley D (December 2016). "Surgical reconstruction for fibular hemimelia". Journal of Children's Orthopaedics. 10 (6): 557–583. doi:10.1007/s11832-016-0790-0. PMC 5145840. PMID 27909861.
  4. ↑ Stanitski DF, Stanitski CL (2003). "Fibular hemimelia: a new classification system". Journal of Pediatric Orthopedics. 23 (1): 30–4. doi:10.1097/01241398-200301000-00006. PMID 12499939. S2CID 41594905.
  5. ↑ Wheeless CR (2011-03-30). "Fibular Hemimelia: (longitudinal fibular deficiency)". Wheeless' Textbook of Orthopaedics. Wheelessonline.com. Archived from the original on 2019-02-28. Retrieved 2012-08-03.
  6. ↑ "Fibular Hemimelia". orpha.net. Archived from the original on 2014-03-13. Retrieved 2013-02-24.
  7. ↑ Papenbrock T, Visconti RP, Awgulewitsch A (April 2000). "Loss of fibula in mice overexpressing Hoxc11". Mechanisms of Development. 92 (2): 113–23. doi:10.1016/S0925-4773(99)00344-5. PMID 10727851. S2CID 14963600.
  8. 1 2 "Orphanet: Fibular hemimelia". www.orpha.net. Archived from the original on 4 March 2016. Retrieved 22 February 2023.
Classification
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