Proximal Femoral Focal Deficiency (PFFD): a Report of Two Rare Cases in Cameroon

Nana Chunteng Theophile

doi:10.19080/oroaj.2021.19.556008

Abstract

Proximal Femoral Focal Deficiency (PFFD): a Report of Two Rare Cases in Cameroon

Highlights

Congenital limb defects represent generalized disorders of cartilage and bone [1]
Proximal femoral focal deficiency (PFFD), known as congenital proximal femoral deficiency (CPFD) is a congenital limb defect which is a subset of a broader group called congenital femoral deficiency
We hereby report two rare cases of PFFD, seen within a period of 3 months, among which one is an unusual case of femoral agenesis

Summary

Introduction

Congenital limb defects represent generalized disorders of cartilage and bone [1]. They are made up of more than 200 heterogeneous disorders, characterized by abnormalities of cartilage and bone growth - resulting in abnormal shape and size of the skeleton and disproportion of the bones [2]. The baby presented with a history of shortened left lower limb that was noticed at birth He weighed 3200g and had an APGAR score of 9 at 1 minute and 9 at 5 minutes. On physical exam, his left thigh was thick, short and bulkier than the right, with an absent hip (Figure 1A). His left thigh was thick, short and bulkier than the right, with an absent hip (Figure 1A) His right lower limb and both upper limbs were normal. The x-rays of the lower limbs showed absent left femur, a dysplastic acetabulum and an overriding tibia and fibula (Figure 1B) These findings were consistent with a femoral agenesis. There was no positive family history of previous similar occurrence On physical examination, his left thigh was bulkier than the right. There was some degree of Coxa vara these findings were consistent with a left PFFD

Discussion

Findings

Conclusion