Related Experiment Video
Updated: Aug 29, 2025

A Reliable and Reproducible Critical-Sized Segmental Femoral Defect Model in Rats Stabilized with a Custom External Fixator
Published on: March 24, 2019
Distal Femoral Focal Deficiency.
Venla Soini1, Mikko Haara, Arimatias Raitio
1From the Department of Paediatric Surgery and Paediatric Orthopaedic Surgery, University of Turku and Turku University Hospital, Turku, Finland (Dr. Soini, Dr. Raitio, Dr. Syvänen), and the Department of Paediatric Orthopaedic Surgery, Helsinki University Hospital, Helsinki, Finland (Dr. Haara).
Distal femoral focal deficiency, a rare congenital condition, involves underdeveloped knee bones. This case highlights a unique presentation and successful surgical treatment for improved limb function.
Area of Science:
- Orthopedics
- Pediatric Surgery
- Genetics
Background:
- Congenital femoral deficiency (CFD) encompasses a spectrum of lower limb anomalies.
- Distal femoral focal deficiency (DFFD) is a rare subtype characterized by hypoplasia of the distal femur with a normal hip joint.
Observation:
- A unique case of DFFD presenting with hypoplasia of the distal femur and deficiency of knee extensor muscles.
- Detailed childhood follow-up was conducted to monitor the limb's development and functional status.
Findings:
- The patient underwent exarticulation (disarticulation at a joint) as the definitive treatment for the condition.
- Comparison with existing literature reveals the rarity and specific challenges associated with this DFFD presentation.
Implications:
- This case contributes to understanding the management of rare DFFD cases.
- Exarticulation can be a viable treatment option for severe distal femoral hypoplasia with extensor deficiency.
- Further research into the genetic and developmental factors of DFFD is warranted.
Related Concept Videos
Bones of the Lower Limb: Femur and Patella
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Bones of the Lower Limb: Tibia and Fibula
Peripheral Artery Disease I: Introduction

