ULTRASOUND OF FIBULA HEMIMELIA (1-6) 

  • Unilateral (one thirds of cases).
  • Complete (more commonly) or incomplete absence of the fibula

-          Unilateral in one-third of cases.

-          Males more common than females.

-          Degree of deficiency varies.

  • Anteromedial bowing of the tibia (with/without shortening). There is a skin dimple at the point of greatest angulation.
  • Talipes equinovalgus.
  • Absence of one or more lateral rays of the foot (2).
  • In bilateral involvement the tibia are usually straight.
  • Non-skeletal anomalies are rarely reported (0.8%)

-          Ipsilateral shortening of the femur.

-          Abnormal femoral head and neck (1).

 

Case 1 - Bowing and shortening of the tibia and femur

              Absent fibula

 

Case 2 – Absent fibula associated with proximal focal femoral deficiency

Talipes equinovarus

 

ASSOCIATIONS
  1. Frequently associated with abnormalities of other bones, pelvis and extremities.
  2. Almost 50% of patients with focal femoral deficiency have fibula hemimelia.
  3. Femur-fibula-ulna syndrome (4).
  4. Omphalocele (5,6).

 

 

REFERENCES
  1. Lewin SO, Opitz JM. Fibula hypoplasia: Review and documentation of the fibular developmental field. Am J Med Genet  (Suppl) 1986;2:215.
  2. Coventry MB, Johnson EW. Congenital absence of the fibula. J Bone Joint Surg (Am) 1952;34:941.
  3. Froster UG, Baird PA. Congenital defects of lower limb and associated malformations: A population based study. Am J Med Genet 1993;45:60.
  4. Hirose K, Koyanagi T, Hara K et.al. Antenatal ultrasound diagnosis of the femur-fibula-ulna syndrome. J Clin Ultrasound 1988;16:199.
  5. Sepulveda W, Weiner E, Bridger JE et.al. Prenatal diagnosis of congenital absence of the fibula. J Ultrasound Med 1994;13:655-657.
  6. Uffelman J, Woo R, Richards DS. Prenatal diagnosis of bilateral fibular hemimelia. J Ultrasound Med 2000;19:341-344.