Fibular Hemimelia in a Young Boy with Delayed Diagnosis and Challenging Parental Decision: A Case Report and Review

Fibular hemimelia (FH) is a rare congenital limb deficiency defined by partial or complete absence of the fibulae bone, often associated with other limb deformities. Here, we present the case of a 2-year-old male who presented late with right femoral head (Rt FH) and proximal femoral deficiency, and whose family faced the challenging decision to decline therapy.

A two-year-old baby boy was presented with delayed ambulation and a history of Rt lower limb deformity discovered since birth, yet no medical advice was sought due to parental reluctance. Examination revealed typical developmental milestones. The affected limb was 3 cm shorter than the contralateral limb, with evidence of muscle wasting, and there were no associated knee joint or toe deformities. A plain X-ray confirmed the absence of Rt fibula and shortened bowed tibia alongside proximal femoral focal deficiency (PFFD), and a CT scan classified it as type II FH with PFFD. After discussing the available therapeutic options, the parents declined any intervention and acknowledged their responsibility in the decision.

Early diagnosis and timely intervention are key factors for enhancing mobility. The late presentation of the case, coupled with the additional ethical challenge posed by the parents’ decision to forgo treatment, highlights the importance of real-time ethical considerations in managing congenital malformations.