Congenital Tibial Deficiency

Document Type

Journal Article

Publication Date

3-15-2019

Journal

Journal of the American Academy of Orthopaedic Surgeons

Volume

27

Issue

6

DOI

10.5435/JAAOS-D-16-00838

Abstract

© 2019 American Academy of Orthopaedic Surgeons. Congenital tibial deficiency is a rare condition characterized by partial to complete absence of the tibia, an intact but frequently overgrown fibula, variable degrees of knee deformity and function, and an abnormal equinovarus foot. It can occur in isolation but also presents concurrently with other orthopaedic anomalies and syndromic conditions. Among these, congenital abnormalities of the hand and femur are most commonly observed. Many theories exist regarding its etiology and some genetic mutations have been identified; however, the underlying mechanism remains unknown. The prognosis and treatment differ based on the clinical severity. The goal of treatment is always to create a stable, functional limb, most commonly with amputation and use of prosthetics. Controversy exists over the level of amputation and the usefulness of reconstructive procedures to preserve the foot and limb length. Current investigation on this complex disorder is focused on identifying its origins and further developing a classification-based treatment algorithm to improve patient outcomes.

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