Presentation
Short right femur.
Patient Data
Age: 5 years
Gender: Male
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/95567/annotated_viewer_json?iframe=true\u0026lang=us"}
The right femur appears short and deformed with a deformed right acetabulum.
Absent patella is noted on the right side.
Genu varus deformity is also seen
Normal left hip.
Appearances are suggestive of proximal femoral focal deficiency (PFFD).
Case Discussion
5 years old boy presenting to his primary physician with significant lower limb length discrepancy on physical examination short right femoral length was appreciated. X-ray of the pelvis show phocomelia of the right femur with associated absent ossification centers of the patella.