Fibular hemimelia

Fibular hemimelia: Description, Causes and Risk Factors: Fibular hemimeliaFibular hemimelia is a congenital disorder characterised by partial or complete absence of the ?bula. It is the most common de?ciency of long bones, and consists of a spectrum of anomalies ranging from mild ?bular shortening to bilateral involvement with associated defects of the femur, tibia, ankle and foot. The usual clinical presentation involves limb-length discrepancy, anteromedial bowing of the tibia, valgus deformity of the knee, equinovalgus deformities of the foot, and ankle instability with absence of the lateral rays of the foot. The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation. Vascular dysgenesis, viral infections, trauma and environmental influences have been suggested as possible causes. Types: type IA fibular hemimelia refers to the condition where only part of the fibula is missing.
  • Type IB describes the state where a third to a half of the fibula is missing and the amount of bone that remains is not sufficient to support the ankle.
  • In type II, the most severe, there is no fibula at all.
Unilateral involvement occurs in two-thirds of cases, with the right fibula being affected more often than the left. Agenesis of both fibulae is rare. Fibular hemimelia may vary from partial absence of the fibula (10% of cases) with relatively normal-appearing limbs, to absence of the fibula with marked shortening of the femur, curved tibia, bowing of the leg, knee joint and ankle instability and significant soft tissue deficiency. The major functional deficiency results from leg length discrepancy in unilateral cases or asymmetrical dwarfism in bilateral cases. The foot is generally in an equinovalgus position. As there is limited growing potential within the affected bone, the extent of the deformity tends to increase with growth. Occasionally, fibular hemimelia is associated with congenital shortening of the femur. Other skeletal anomalies (craniosynostosis, syndactyly, brachydactyly, oligodactyly and ectrodactyly) may also be present. Fibular hemimelia is also found in several generalized skeletal dysplasias and dysostoses. Rarely, fibular hemimelia is associated with nonskeletal malformations (eye abnormalities such as anterior chamber anomalies or anophthalmia, cardiac anomalies, renal dysplasia, thrombocytopenia, thoracoabdominal schisis, spina bifida and, rarely, intellectual deficit). Fibular hemimelia can be present in some chromosome anomalies. Prevalence is estimated at 1 in 50,000. A slight male preponderance has been reported in some studies, whereas other reports describe an equal sex distribution. Symptoms: Signs: 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.
  • Sometimes, absence of part of the foot.
Diagnosis: Severe cases are likely to be seen at scans during pregnancy. In milder cases it may at first be thought to be a foot deformity but when the shortening of the leg becomes more noticeable and the leg is X-rayed the full picture can be seen. Most cases of fibular hemimelia are thought to occur for no reason. Treatment: Management should be based on a careful analysis of functional, psychological, and cosmetic needs of the patients. The treatment of type IA fibular hemimelia does not always involve surgery because, in milder cases, walking may be possible with the use of a heel lift. A heel lift is an extra piece added to a shoe in order to effectively equalize the lengths of the legs. Sometimes, with only a small difference in leg lengths, a technique known as contralateral epiphysiodesis may be used in order to shorten the opposite leg. This procedure, which stops the bone from growing, is timed carefully to coincide with the final growth phase in adolescence, with the aim of leaving the normal leg slightly short. For a larger difference in leg length and where the ankle and foot are not too misshapen, surgery can be performed which extends the shortened limb. Type IB fibular hemimelia is treated similarly to IA, although operations may also be required to correct the angle of the ankle and stabilize the foot. For type II, a number of different surgical procedures may be necessary. The foot is sometimes removed early in life and prosthesis may be used to enable efficient walking. NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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