Hosting 728 files, 2951 images, and 4 contributors.

Random Case

Joseph Junewick, MD FACR
over 10 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Proximal Focal Femoral Deficiency

Case Detail

Anatomy: Musculoskeletal
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: CR US
Adobe32 PDF Imagej32 ImageJA


Newborn with limb anomalies.

Case Images


Proximal focal femoral deficiency with contralateral fibular hemimelia.


CR – Left femur is nonossified and short. The proximal left fibula is subtly thin. The right tibia is bowed and the fibula is nonossified.

US – The left femur is completely cartilaginous but has normal hip and knee articulations. The right fibula absent.


Proximal focal femoral deficency (PFFD) represents variable dysgenesis of the proximal femur. Most cases are isolated but PFFD can occur in conjunction with caudal regression or in infants of diabetic mothers. Most are unilateral. PFFD results in average shortening of about 60%. Also commonly seen is ipsilateral tibial shortening, equinovarus deformity and anomalies of the lateral digits. The underlying pathogenesis is related to altered proliferation of chondrocytes in the proximal femoral physis.

Prognosistic indicators include 1) presence or absence of the femoral head, 2) normal or dysplastic acetabulum, 3) absence or length of distal femoral ossification, and 4) presence or absence of bony connection of the femoral head and more distal femur. Ultrasound or MR is helpful to better define the femoral anatomy.

PFFD is frequently seen in association with ipsilateral fibula hemimelia (50% of cases). This case is unusual in that the ipsilateral fibular hemimelia is minimal (if at all) but the contralateral fibular hemimelia is complete.


Ozonoff MB. Pediatric Orthopedic Radiology, 2nd Ed. WB Saunders Co (1992).

Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare