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Year : 2022  |  Volume : 5  |  Issue : 4  |  Page : 161-164

Amputate or not amputate? A fibular hemimelia case report

Department of Physical Medicine and Rehabilitation, Hospital de Braga, Braga, Portugal

Date of Submission15-Jul-2022
Date of Decision15-Sep-2022
Date of Acceptance02-Nov-2022
Date of Web Publication13-Dec-2022

Correspondence Address:
Dr. Ana Rita Raposo
Freguesia de São Victor, Sete Fontes, Braga
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijprm.JISPRM-000172

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Fibular hemimelia is the most frequent congenital defect of the long bones. It has a wide spectrum of clinical and radiological presentations ranging from minor hypoplasia to complete absence of the fibula. Treatment options range between orthotic support, limb reconstruction, and amputation. In the current article, we present a complex clinical case of a young patient with fibular hemimelia. The patient presented a dysmetria of the lower limbs of 21 cm, also an equinovalgus foot position, and several malformations of the foot and toes. She walked with adapted orthosis and crutches, which was proved difficult for her, and esthetically undesirable. Due to the impairment on her quality of life, she was referred initially to bone-lengthening surgery. However, this surgery did not obtain satisfactory results, in both esthetic and functional levels. Hence, the patient was referred to amputation, with a better outcome after. In this clinical case, and reviewing the current literature, we aim to reflect on the implications of the different surgical options in the treatment of fibular hemimelia, and the role of physical medicine and rehabilitation in the functional recovery of these patients. We invite readers to reflect on some questions: Is amputation the best treatment in cases of serious fibular hemimelia? Should a bone-lengthening procedure be attempted before amputation? Should the amputation be delayed? To amputate or not to amputate?

Keywords: Amputation, bone-lengthening procedure, case report, fibular hemimelia

How to cite this article:
Raposo AR, Lobarinhas A. Amputate or not amputate? A fibular hemimelia case report. J Int Soc Phys Rehabil Med 2022;5:161-4

How to cite this URL:
Raposo AR, Lobarinhas A. Amputate or not amputate? A fibular hemimelia case report. J Int Soc Phys Rehabil Med [serial online] 2022 [cited 2023 May 29];5:161-4. Available from: https://www.jisprm.org/text.asp?2022/5/4/161/363468

  Introduction Top

Despite being rare, fibular hemimelia is the most frequent congenital defect of the long bones.[1] It has a wide spectrum of clinical and radiological presentations ranging from minor hypoplasia to complete absence of the fibula.[2] According to the ISO/ISPO classification of congenital limb deficiency, fibular hemimelia is a longitudinal deficiency, since it presents a reduction or absence of an element within the long axis of the limb.

This condition is usually unilateral, affecting the male gender more frequently.[3] The majority of cases are sporadic. In particular situations, when multiple limbs are affected, its etiology may either be related to an autosomal-dominant gene disorder or to a teratologic agent, such as a drug, radiation, or a virus.[4]

Fibular hemimelia may be associated with other malformations such as limb dysmetria, acetabular dysplasia, and foot and ankle deformities. Additionally, upper-limb abnormalities may also be present, such as ulna hemimelia and syndactyly.[3]

Fibular hemimelia is classified into different groups according to the degree of severity. Paley proposed a classification in 2003 and modified it in 2015. This classification is the first classification to be designed with reconstructive surgery options in mind.[2],[4] There are five types from the least to most deficiency level, as shown in the following list.

  • Type 1: Stable normal ankle
  • Type 2: Dynamic valgus ankle
  • Type 3: Fixed equinovalgus ankle; it is further subdivided according to the orientation of the ankle and subtalar joints
  • Type 4: Fixed equinovarus ankle (clubfoot type).[2],[4]
  • Type 5: Complete tibial aplasia

Another significant classification is the Birch classification (2011).[2],[4]

The Birch classification divides fibular hemimelia into two categories based on the potential of the foot to be reconstructed. In Type 1, the foot is reconstructable, whereas in Type 2, it is not. Furthermore, Type 1 hemimelia is further subdivided into four groups according to limb-length discrepancy. In Type 1A, limb-length discrepancy is less than 6%; Type 1B, it is 6%10%; Type 1C, it is 11%30%; and Type 1D, it is more than 30%. This subdivision, according to limb shortening, is important as it has implications for treatment:

In patients with Birch Types 1A and 1B, with a plantigrade foot and a limb-length discrepancy less than 6%, surgical treatment may not be necessary and orthotic treatment may be sufficient. In patients with Birch Types 1C, 1D, and 2, the decision to pursue amputation versus limb salvage should focus on the possibility of foot reconstruction and expected limb-length discrepancy. Limbs with a nonreconstructable foot or large discrepancy in excess of 30% will require multiple procedures.[2],[4]

In the following clinical case, we present a young female patient with severe fibular hemimelia. This case is of special interest because the patient only had the surgery in her adulthood. Furthermore, the patient was first referred to bone lengthening, after which she failed to improve significantly. Only after amputation, her quality of life improved.

The patient's informed consent was obtained for the presentation of the clinical case.

  Case Report Top

A 25-year-old woman diagnosed with fibular hemimelia (ISO/ISPO classification: fibula total, tarsus partial, ray 5 partial) presents dysmetria of the lower limbs of 21 cm, and subsequent moderate scoliosis. The foot is noted to have an equinovalgus position, without active movement. A syndactyly of the 5° ray also was observed. Her ability to walk was markedly impaired, and she needed an adapted orthosis. She had no other relevant personal background. Her parents were healthy and nonconsanguineous.

The patient underwent bone-lengthening procedure (femur osteotomy and lengthening with magnetic stretching nail), gaining 35 mm in leg length. Although she presented a slight functional improvement, she maintained several deformities, and her quality of life persisted affected [Figure 1]. Hence, after 9 months, the patient was referred to transtibial amputation. This level of amputation was chosen due to the malformations being at the leg, ankle and foot. It is important to note that, despite being a case of serious fibular hemimelia, the first approach was bone lengthening, in the expectation of a significant improvement in functionality with a more conservative approach. However, this approach failed to achieve the desired outcome, and the decision to amputate was viewed favorably by the patient. She valued more a functional limb with prosthetic support, rather than a deformed and nonfunctioning one. Furthermore, it is important to note that, although the preferred timing for amputation is before walking age, because of family pressure, the patient only was able to do the surgery at 25 years old.
Figure 1: Computed tomography reconstruction of the right affected leg before lengthening procedure (a), and radiographic presentation of the right affected leg before (b) and after (c) bone-lengthening procedure. A complete absence of the right fibula is displayed. The tibia has a dysmorphic appearance, being shortened and with an anterior curvature. The foot has an equinovalgus position. There is a diffuse alteration in the trabecular pattern of the tibia and of the foot bones. Astragalus-calcaneal dysmorphia and syndactyly of the 5° ray can be observed, with the presence of metatarsal and proximal phalanx, with bifurcation from this segment

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A lower-limb prosthesis was prescribed – endoskeletal prosthesis, with hydraulic-type prosthetic system for knee, ankle, and foot, and prosthetic foot with adjustable heel height (the patient would like to wear high heels, which she had never been able to do before). Furthermore, the patient underwent an intensive rehabilitation program. The rehabilitation program integrated treatments to help improve wound healing and stump care, activities to help improve motor skills, restore activities of daily living, and help the patient reach maximum independence, exercises that promote muscle strength, endurance, and control, fitting and use of prostheses, pain management for both postoperative and phantom pain, and adapting the home environment for ease of function, safety, accessibility, and mobility.

Two years after the amputation, the patient displayed a marked functional improvement, which was verified through the results of several functional tests. In the 2-min walk test, she showed an improvement of 38 m. In the L-Test of Functional Mobility (L Test), there was an improvement of 10 s. Furthermore, the patient presented an improvement in the quality of life profile in the six domain score of the World Health Organization Quality of Life Instruments questionnaire: in physical domain, she showed an improvement about 80%, in psychological domain about 50%, in level of independence about 60%, in social relationships about 30%, and in environment, and spirituality about 30%). Currently, the patient walks autonomously with a lower-limb prosthesis without crutches.

  Discussion Top

Deciding the ideal treatment for fibular hemimelia remains controversial. The limb-length discrepancy, configuration, stability, and range of motion of the ankle and foot joints are important factors to keep in consideration while choosing the adequate treatment. These factors represent more important determinants for adequate weight-bearing than the number of rays present in a foot.[4] The limb lengthening procedure is indicated in cases with limb discrepancy of 10 cm or less, with mild-to-moderate foot deformity, and stable hip, knee, and ankle.[4] Cases that present with a discrepancy greater than 20-30 cm and severe foot and ankle deformities, amputation is the referred treatment.[4]

Bone-lengthening procedure can result in a gain of as much as 7-10 cm in the tibia and 16 cm in the femur.[5] However, this procedure is associated with a considerable number of persisting malformations after treatment, and patients often require multiple surgeries.[6] An analysis of the unsatisfactory results reported in different series in the literature makes it clear that the poor results were associated with recurrent or residual foot and tibial deformities, and not the inability to obtain equalization of limb length.[4] Furthermore, several complications may occur, such as: infection, poor quality osteogenesis, fracture after material ablation, stiffness, joint subluxation or dislocation, palsy, pain, psychological problems, disorder of blood supply, and material failure.[4],[6]

The most usual treatment for serious fibular hemimelia is amputation, which results in lower frequency of surgical complications, fewer subsequent procedures, and better functional improvement.[2],[7],[8] The preferred timing for amputation is before walking age (around the age of 1 year). Syme or Boyd amputation, combined with an epiphysiodesis to create the optimal leg length difference, seems to be the best option.[4] However, it should be noted that this alternative can only be created during the growth period in childhood. In other cases, transtibial amputation may also be an option.[4] Although, as can be inferred, amputation can entail social, cultural, and religious issues, which can lead the patient to refuse it, even when it is indicated as the primary treatment. Families often struggle with making decisions in this scenario. Carefully explaining the treatment and possible outcomes may prove beneficial, as well as understanding their concerns. It is important to involve the patient as much as possible. When amputation is the most appropriate treatment, it should be seen as a starting point for a significant improvement in functionality and quality of life, rather than being seen as an unfavorable outcome.

There is no question that a patient with fibular hemimelia who undergoes an amputation and a good prosthetic fitting will function normally for almost any activity. However, if an amputation could be avoided and the leg reconstructed to nearly normal function, the reconstruction will be chosen. Nevertheless, great advances in bone-lengthening techniques are still needed, so that more patients can be submitted to these procedures.

The successful treatment of patients with fibular hemimelia requires adequate prescription of prosthetics as well as individualized rehabilitation programs for each patient.[9],[10] Moreover, managing patients and families' expectations regarding the surgical and prosthetic technology is important.

In conclusion, recent literature has demonstrated that several treatment options for fibular hemimelia can be considered. Despite developments in limb reconstruction techniques, in serious fibular hemimelia, amputation with prosthetic fitting may be the most effective treatment due to its lower frequency of surgical complications, fewer subsequent procedures, and better functional improvement.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understand that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Rogala EJ, Wynne-Davies R, Littlejohn A, Gormley J. Congenital limb anomalies: Frequency and aetiological factors. Data from the Edinburgh register of the newborn (1964-68). J Med Genet 1974;11:221-33.  Back to cited text no. 1
Paley D. Tibial hemimelia: New classification and reconstructive options. J Child Orthop 2016;10:529-55.  Back to cited text no. 2
Shikhare SN, See PLP, Dubey N. 'I stand corrected'. BJR Case Rep. 2015;1:20150237.  Back to cited text no. 3
Paley D. Surgical reconstruction for fibular hemimelia. J Child Orthop 2016;10:557-83.  Back to cited text no. 4
Alaseirlis DA, Korompilias AV, Beris AE, Soucacos PN. Residual malformations and leg length discrepancy after treatment of fibular hemimelia. J Orthop Surg Res 2011;6:51.  Back to cited text no. 5
Catagni MA, Radwan M, Lovisetti L, Guerreschi F, Elmoghazy NA. Limb lengthening and deformity correction by the ilizarov technique in type III fibular hemimelia: An alternative to amputation. Clin Orthop Relat Res 2011;469:1175-80.  Back to cited text no. 6
McCarthy JJ, Glancy GL, Chnag FM, Eilert RE. Fibular hemimelia: Comparison of outcome measurments after amputation and lengthening. J Bone Joint Surg Am 2000;82:1732-5.  Back to cited text no. 7
Klarich J, Brueckner I. Amputee rehabilitation and preprosthetic care. Phys Med Rehabil Clin N Am 2014;25:75-91.  Back to cited text no. 8
Grzebień A, Chabowski M, Malinowski M, Uchmanowicz I, Milan M, Janczak D. Analysis of selected factors determining quality of life in patients after lower limb amputation – A review article. Pol Przegl Chir 2017;89:57-61.  Back to cited text no. 9
Sakkers R, van Wijk I. Amputation and rotationplasty in children with limb deficiencies: Current concepts. J Child Orthop 2016;10:619-26.  Back to cited text no. 10


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