Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature

Abstract

Proximal femoral focal deficiency (PFFD) is a rare congenital anomaly of the femur ranging from mild shortening to total agenesis. If left untreated, it could lead to impaired child growth, abnormal gait, vertebral abnormalities, cosmetic problems, and behavioral changes. We report on an Egyptian female, presenting to us at the age of 15 days with a short left lower limb. Both upper limbs and the right lower limb were normal and she was not dysmorphic. The skeletal survey showed an isolated short left femur. At the age of 11 months, clinical reexamination confirmed left femur shortening. Echocardiogram and abdominal sonography revealed no abnormality. Magnetic resonance imaging (MRI) of the pelvis and lower limbs revealed isolated left proximal femoral focal deficiency. Her developmental milestones were normal. She was referred to pediatric orthopaedics for early intervention and proper management. To our knowledge and after reviewing the literature, this patient represents the first case of unilateral isolated proximal focal femoral deficiency in Egypt. In conclusion, PFFD diagnosis needs a systemic skeletal–facial–genital phenotyping to differentiate from overlapping genetic disorders. Early diagnosis and radioimaging are highly important for proper management.

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

“…PFFD has not been proven to be a genetic disease and should be differentiated from other genetic diseases with similar manifestation. These include femoral hypoplasia-unusual facies syndrome also called femoral-facial syndrome, femur/fibula/ulnar hypoplasia syndrome and limb/ pelvis-hypoplasia/aplasia syndrome also called Al-Awadi/RAAS-Rothschild's syndrome [10]. Genetic screening was not done for our two cases because it is not possible in our context due absence of adequate resources.…”

“…The mode of inheritance is sporadic; however, a few familial cases have been reported [11]. Cases of PFFD have been reported in Africa [7][8][9][10] but none in Cameroon before now. Having two cases of this sporadic disease within a period of 2 months in our context among which a case of femoral agenesis is our main aim for this report.…”

“…Paley later published a classification that is more focused on pathologic factors determining management strategies [10,19,20]. The Paley's system is described as follows (see figure 3 Orthopedics and Rheumatology Open Access Journal (OROAJ) mechanical injuries, thermal injuries, thalidomide exposure, and fetal trauma between the 4thand 8th weeks of gestation [6,7,10]. However, none of these factors were present in our indexed patients or their mothers.…”

“…According to the Aitken's classification, our index patient 2 was class B while our index patient 1 could not be classified using this system. Paley later published a classification that is more focused on pathologic factors determining management strategies [10,19,20]. The Paley's system is described as follows (see figure 3 Orthopedics and Rheumatology Open Access Journal (OROAJ) mechanical injuries, thermal injuries, thalidomide exposure, and fetal trauma between the 4thand 8th weeks of gestation [6,7,10].…”

“…Risk factors for PFFD include maternal hypoxia, ischemia, diabetes mellitus, irradiation, microbiological agents, chemical toxicities, hormones, mechanical injuries, thermal injuries, thalidomide exposure, and trauma to the fetus and/or mother between the fourth and eighth weeks of gestation [6]. Although PFFD is an uncommon, unusual and sporadic anomaly, some cases have been reported in some African countries including Nigeria [7,8], Rwanda [9] and Egypt [10], and none in Cameroon before now. 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.…”