Fibular hemimelia

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Fibular hemimelia
Other namesLongitudinal fibular deficiency
Fibula Hemimelia on right leg of patient.jpg
Fibula hemimelia in patient affecting right side
Specialty Medical 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 occurs 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]

Contents

Characteristics

Bones of human lower extremity Illu lower extremity.jpg
Bones of human lower extremity
X-ray image of fibular hemimelia type II (fibula completely absent) FHemiMelie.jpeg
X-ray image of fibular hemimelia type II (fibula completely absent)

Characteristics are:[ citation needed ]

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.[ clarification needed ] [5]

Causes

The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family;[ citation needed ] however, this does not account for all cases. Possible causes include 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. [6]

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

Notable people

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. Retrieved 2012-08-03.
  6. ↑ "Fibular Hemimelia". orpha.net. 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.
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