CC BY 4.0 · Journal of Child Science 2020; 10(01): e126-e133
DOI: 10.1055/s-0040-1716918
Case Report

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

1  Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Egypt
,
Angie M.S. Tosson
2  Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt
,
Mohamed B. Taher
1  Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Egypt
› Author Affiliations
  

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.



Publication History

Received: 04 July 2020

Accepted: 15 August 2020

Publication Date:
01 October 2020 (online)

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Georg Thieme Verlag KG
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