Also known as congenital absence of the fibula, congenital fibular deficiency, paraxial fibular hemimelia and aplasia/hypoplasia of the fibula, fibular hemimelia . Fibular hemimelia. Disease definition. Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula. consists of shortening or entire absence of the fibula; previously known as fibular hemimelia; the most common congenital long bone deficiency.

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Surgical reconstruction for fibular hemimelia

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Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. Prevalence is estimated at 1 in 50, A slight male preponderance has been reported in some studies, whereas other reports describe an equal sex distribution.

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. 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.

Fibular Hemimelia (for Parents)

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 femur-fibula-ulna complex; see this term. Other skeletal anomalies craniosynostosis, syndactyly, brachydactyly, oligodactyly and ectrodactyly may also be present.

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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. 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.

Fibular Deficiency (anteromedial bowing)

Vascular dysgenesis, viral infections, trauma and environmental influences have been suggested as possible causes. Differential diagnoses include amniotic band syndrome, thalidomide embryopathy and several skeletal dysplasias and dysostoses with asymmetrical involvement of the lower limbs such as femoral-facial syndrome see these terms. Most cases are sporadic.

A family history has been reported heimmelia a small percentage of cases with an autosomal dominant pattern of inheritance and incomplete penetrance. Management requires a multidisciplinary approach genetic counselors, perinatologists and pediatric orthopedic surgeons. Orthopedic treatment aims at correcting the leg length discrepancy, and, in bilateral cases, correcting the asymmetrical dwarfism.

In some mild cases, epiphysiodesis on the contralateral normal side is also an option. In moderate fibylar length inequality, limb lengthening is hemimelix option but it carries the risk of requiring multiple reconstructive procedures and complications.

Rarely, for cases of severe limb length discrepancy or complete absence of the fibula when the foot is nonfunctional, amputation with prosthetic fitting in early childhood may be considered. Fibular deficiency is usually a benign condition, although in severe cases it can be debilitating.

Acceptable functional results may be achieved by surgery. In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. Other search option s Alphabetical list. Summary and related texts.

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Fibular hemimelia – Wikipedia

Check this box if you wish to receive a copy of your message. Disease definition Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of hemimella fibula bone. Congenital longitudinal deficiency of the fibula Fibular longitudinal meromelia Prevalence: Summary Epidemiology Prevalence is estimated at 1 in 50, Clinical description Unilateral involvement occurs in two-thirds of cases, with the right fibula being affected more often than the left.

Etiology The etiology is unclear. Diagnostic methods Diagnosis is based on clinical examination fivular X-rays. Differential diagnosis Differential diagnoses include amniotic band syndrome, thalidomide embryopathy and several skeletal dysplasias and dysostoses with asymmetrical involvement of the lower limbs such as fibulxr syndrome see these terms. Antenatal diagnosis Prenatal diagnosis of fibular hemimelia has been reported.

Genetic counseling Most cases are sporadic. Management and treatment Management requires a multidisciplinary approach genetic counselors, perinatologists and pediatric orthopedic surgeons.

Prognosis Fibular deficiency is usually a benign condition, although in severe cases it can be debilitating. Additional information Further information on this disease Classification s 3 Gene s 0 Other website s 0.

Hemimeliw care resources for this disease Expert centres Diagnostic tests 2 Patient organisations 31 Orphan drug s 0.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.