Fibular hemimelia is a rare congenital condition characterized by hypoplasia of a bone segment associated with malformations. Its clinical presentation is highly variable, not only in terms of the types of malformations but also their severity. If untreated, it can lead to significant functional impairments. Managing patients with this condition often spans several decades. There is no standardized treatment protocol, and to our knowledge, no recent French study has analyzed the surgical strategies implemented and the long-term functional outcomes in these patients. The last French descriptive series on this pathology was conducted by Lefort and Carlioz in 1976, involving 62 cases.

We aimed to conduct a descriptive study of cases of fibular hemimelia in France. Our hypothesis was that, despite the highly variable clinical presentation and therapeutic approaches, patients achieve satisfactory functional outcomes.

This multicentric retrospective study analyzed patients with fibular hemimelia born between 1964 and 2019. Questionnaires were collected from the physicians in the participating centers and the patients. Extensive radiographic measurements were performed to assess morphological anomalies, limb length discrepancies, and angular deformities, and to document the management strategies employed. Functional evaluation was conducted using the EQ-5D-5L score.

A total of 103 patients were analyzed. The mean age at diagnosis was 2.1 years, with a predicted mean limb length discrepancy (LLD) of 10.3 cm. The most frequent anomalies included fibular hypoplasia, dome-shaped talus, and hypoplasia of the lateral femoral condyle. A total of 81% of patients underwent at least one limb-lengthening surgery, with a complication rate of 73%. Non-lengthening surgeries (71%) primarily addressed the ankle, knee, vestigial band, and foot. The median final LLD was less than 2 cm, but 37% of patients lacked plantigrade support. At the last follow-up, the mean EQ-5D-5 L score was 79/100.

This study represents the second-largest cohort in terms of sample size and follow-up duration. The correction of LLD was satisfactory. Despite a high complication rate for lengthening procedures and a significant proportion of patients without plantigrade support, functional outcomes were generally favorable. Increasing the cohort size could enable subgroup analyses to identify potential factors influencing management outcomes.

IV; uncontrolled retrospective cohort study.