Lower limb deformities and limb length discrepancies in hereditary multiple exostoses


Hereditary multiple exostoses; knee; ankle; deformity; EXT gene; limb length discrepancy

Published online: May 03 2022


Alexandre Madoki, Clément Tuerlinckx, Gauthier Rausin, Kevin Guiraud, Pierre-Louis Docquier

From the Cliniques universitaires Saint-Luc, Service d’orthopédie et de traumatologie de l’appareil locomoteur, Brussels, Belgium


There is a high rate of lower limb deformity and limb length discrepancy in patients with hereditary multiple exostoses (HME). The aim of this study was to evaluate the type and frequency of lower limbs axial deviation and limb length discrepancy and the type of exostoses being risk factors for theses deformities. We retrospectively reviewed standing full-length radiograph of 32 HME patients (64 limbs) followed in our institution between October 2009 and December 2020. Patient demographics were recorded. Radiographic analysis of the coronal limb alignment was performed, limb length discrepancy was measured and topography of the exostoses was recorded. We propose a classification of lower legs in 2 groups and 4 types according to the presence and the location of exostoses. In group I, there is an intertibio- fibular exostose with fibular origin at the level of the tibiofibular joints. In type IA, at the level of the distal tibiofibular joint with ascension of the distal fibula; in type IB at the level of the proximal tibiofibular joint with a bracketing effect on the proximal tibia and a lateral slope of the proximal tibial growth plate; the type IC is combining features of both IA and IB. In group II, there is no intertibio-fibular exostose coming from the fibula and no growth abnormality is obvious. A clinically notable lower limb discrepancy (LLD) of ≥2 cm was found in 19% of our patients. Approximately 33% of patients had a knee valgus deformity and 44% had an ankle valgus deformity. The knee valgus deformity was due to fibular growth anomalies and not to distal femur anomalies. The majority of lower legs had fibular growth anomalies (72%) which was a significant risk factor for knee valgus deformity and leg length discrepancy. On the contrary, we found no correlation between number, location and volume of distal femoral exostoses and genu valgum nor leg length discrepancy. Presence of intertibio-fibular exostoses is a risk factor for knee valgus deformity and leg length discrepancy. The presence of these exostoses should lead to a close follow-up of the patient.