Presentation
History and Physical Examination
Presentations of postaxial hypoplasia of the lower extremity (fibular hemimelia) vary widely, ranging from what appears to be merely an absent fifth toe in a newborn or a minimal difference in limb lengths to severe fibular deformities that are immediately apparent. [15] The clinician must also look for associated abnormalities, including problems with alignment and stability, and must realize that the clinical picture may evolve with growth and development.
Clinical findings may include the following:
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Fibular abnormality, ranging from minimal shortening to complete absence of the fibula (see the first and second images below)
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Femoral hypoplasia with external rotation
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Lateral patellar subluxation
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Hypoplastic lateral femoral condyle
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Genu valgum with lateral mechanical axis displacement
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Flattened tibial eminence with absent cruciate and a positive Lachman sign
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Short or bowed tibia (see the third image below)
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Ankle valgus
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Ball-and-socket ankle (see the fourth image below)
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Absent tarsal bones (see the fifth image below)
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Absent foot rays [16]
Type II fibular hemimelia (complete absence) in 4-month-old girl. Note skin dimple in midtibial area and 2-ray foot. Image courtesy of Dennis P Grogan, MD.
Type II fibular hemimelia (complete absence) in 1-year-old girl. Note that foot is in significant valgus position. Image courtesy of Dennis P Grogan, MD.
Type II fibular hemimelia and significant anterior bowing of tibia in 9-month-old boy. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia. Ball-and-socket ankle joint is common finding in fibular hemimelia. In and of itself, it is usually not problematic, but it is commonly associated with limb-length discrepancy and tarsal coalition. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia in 4-month-old girl. Fibula is absent, as is proximal tibial ossification center. Two metatarsals are associated with 3 phalanges, 2 of which are fused to form only 2 toes. Image courtesy of Dennis P Grogan, MD.
Media Gallery
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Type IB fibular hemimelia in 3-year-old boy. Fibula is short relative to tibia, and tibia is shorter on affected side. Note that tibia is also mildly bowed. Image courtesy of Dennis P Grogan, MD.
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Type IB fibular hemimelia in same patient as in preceding image. By age 5 years, limb-length discrepancy is progressive and significant. Image courtesy of Dennis P Grogan, MD.
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Type II fibular hemimelia (complete absence) in 1-year-old girl. Note that foot is in significant valgus position. Image courtesy of Dennis P Grogan, MD.
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Fibular hemimelia. Ball-and-socket ankle joint is common finding in fibular hemimelia. In and of itself, it is usually not problematic, but it is commonly associated with limb-length discrepancy and tarsal coalition. Image courtesy of Dennis P Grogan, MD.
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Type II fibular hemimelia (complete absence) in 4-month-old girl. Note skin dimple in midtibial area and 2-ray foot. Image courtesy of Dennis P Grogan, MD.
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Fibular hemimelia in 4-month-old girl. Fibula is absent, as is proximal tibial ossification center. Two metatarsals are associated with 3 phalanges, 2 of which are fused to form only 2 toes. Image courtesy of Dennis P Grogan, MD.
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Type IA fibular hemimelia in 8-year-old boy. Significant valgus hindfoot is due to shortened fibula. Image courtesy of Dennis P Grogan, MD.
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Type II fibular hemimelia and significant anterior bowing of tibia in 9-month-old boy. Image courtesy of Dennis P Grogan, MD.
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Fibular hemimelia in same patient as in preceding image. Because tibial bowing caused prosthetic fitting problems, corrective osteotomy was performed. Image courtesy of Dennis P Grogan, MD.
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Type IB fibular hemimelia in 8-year-old boy. Limb-length discrepancy is 6 cm. Patient is undergoing tibial lengthening with unilateral external fixation device. Image courtesy of Dennis P Grogan, MD.
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Fibular hemimelia in 10-year-old girl. Patient is undergoing lengthening of tibia with Ilizarov device, which incorporates foot so as to maintain foot position during lengthening with lift. Device can be adjusted as lengthening proceeds and discrepancy decreases. Image courtesy of Dennis P Grogan, MD.
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Fibular hemimelia. Specimen was removed at time of Syme amputation in patient with fibular hemimelia and significant limb-length discrepancy, prior to prosthetic fitting. Note separate ossification centers for the talus and calcaneus, but no joint space is evident. Image courtesy of and copyright held by Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency: a comparison of the radiographic and pathological findings. J Bone Joint Surg Am 1994;Sep 76(9):1363-70.
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Fibular hemimelia. Clinical photograph of specimen shown in preceding image. Note that ossification centers are actually part of single solid cartilaginous anlage; 2 separate ossification centers fuse during adolescence, and only then is tarsal coalition radiographically evident. Image courtesy of and copyright held by Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency: a comparison of the radiographic and pathological findings. J Bone Joint Surg Am 1994;Sep 76(9):1363-70.
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