A re-examination of the patterns of foot and ankle deformities in congenital limb deficiencies

Purpose: The aim of this study is to evaluate foot deformities and anomalies present in congenital limb deficiencies (CLDs). We sought to define the relationship between the type of limb deficiency and foot posture, patterns of ray deficiencies, and association between tarsal coalition (TC) and ball-and-socket ankle. Materials and Methods: This is a single institution, retrospective radiograph, and medical record review of patients with CLD, comprising congenital femoral deficiency (CFD), tibial hemimelia (TH), and fibular hemimelia (FH) from January 2000 to January 2019. Data extracted included patient demographics, predicted leg length discrepancy, associated deformities and anomalies, and specifics of the foot deformity. Surgical procedures were recorded. Data were reported using descriptive statistics. Fisher's exact test analyses of contingency tables were used for the exploratory components of this study. Results: Eighty-one patients with 97 limb deficiencies were identified (16 – CFD, 18 – TH, and 63 – FH). Isolated CFD was not associated with foot and ankle deformity and TH was associated with an equinocavovarus foot in all limbs. In FH, an equinocavovarus deformity was present in 15/63 (24%) feet, most requiring foot surgery. Of 48 patients with FH and absent rays, two lacked lateral rays, whereas the remainder missed one or more intermediate rays. TC was unrelated to the presence of ball-and-socket ankle. Conclusions: This study demonstrates heterogeneity in the spectrum of foot and ankle deformity in CLD, particularly in FH. Recognition of this phenotypic variation is critical for surgeons to formulate a comprehensive treatment plan and ensure optimal functional outcomes. Level of Evidence: IV.