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

Manal M Thomas,Angie M.S Tosson,Mohamed B Taher

doi:10.1055/s-0040-1716918

Manal M Thomas, Angie M.S Tosson + Show 1 more

Open Access

https://doi.org/10.1055/s-0040-1716918

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Abstract

AbstractProximal 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.

Highlights

Proximal femoral focal deficiency (PFFD) is a rare congenital defect of the proximal femur, which manifests as hypoplasia of the femur resulting in a shortening of the affected limb
We report on an Egyptian female, presenting to us at the age of 15 days with a short left lower limb
PFFD is caused by the deficient formation of the subtrochanteric part of the femoral shaft affecting its length with subsequent deformity ranging from mild femoral shortening to absent femur and acetabulum.[3]

Summary

Introduction

Proximal femoral focal deficiency (PFFD) is a rare congenital defect of the proximal femur, which manifests as hypoplasia of the femur resulting in a shortening of the affected limb. Magnetic resonance imaging (MRI) is used for definitive subtype classification, which is needed for accurate prognosis and management.[6] Congenital hypoplasia of the femur is part of several medical conditions. PFFD should be differentiated from the following three overlapping genetic syndromes: (1) femoral hypoplasia–unusual facies syndrome (FH/UFS), called femoral–facial syndrome (FFS; MIM: 134780); (2) femur/ fibula/ulnar hypoplasia syndrome (FFU: MIM: 228200); and (3) limb/pelvis–hypoplasia/aplasia syndrome (LPHA), called Al-Awadi/RAAS-Rothschild’s syndrome (AARRS; MIM: 276820).[4,5] received July 4, 2020 accepted August 15, 2020. A short review of the PFFD classification and future counseling is presented

Patient and Results

Discussion

Conclusion