Proximal focal femoral deficiency: A case report

Sharma, Shashank; Pant, Rochan; Negi, R. S.; Rai, S.B.; Joshi, Pratibha; Hashim, PI

doi:10.4103/0975-3605.203706

Cited by 2 publications

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“…Type C patients have severe acetabular dysplasia, lack of femoral head, absence of femoroacetabular contact and severe femoral shortening. Type D, the most severe form of PFFD, is characterised by the lack of femoral head, acetabulum and any relationship between the residual femur and pelvis 7 8. Showing severe acetabular dysplasia, absence of the femoral head and severe femoral shortening, the phenotype of the case we currently present seems to fit the type C. However, different from the radiographic appearance of the type C PFFD in a small child, our patient radiographically showed no discontinuity of pelvis and femur.…”

Section: Discussioncontrasting

confidence: 57%

Isolated unilateral proximal focal femoral deficiency presenting in a young woman

et al. 2020

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Proximal focal femoral deficiency (PFFD) is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows. In addition, treatment procedures applied to the child affect the radiographic presentation of the disease in adulthood. Almost all cases of PFFD reported to date are in young children and in the current literature, there is a paucity of radiographic images of PFFD in mature skeleton. The aim of this case report is to present the radiographic appearance of PFFD in an adult patient and to increase awareness among radiologists about this disease.

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Section: Discussioncontrasting

confidence: 57%

Isolated unilateral proximal focal femoral deficiency presenting in a young woman

et al. 2020

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“…Proximal femoral focal deficiency (PFFD) is a subset of a broader group called congenital femoral deficiency. PFFD is also known as congenital proximal femoral deficiency (CPFD) [1]. It is a rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births [2][3][4][5].…”

Section: Introductionmentioning

confidence: 99%

Proximal femoral focal deficiency – a rare congenital entity: two case reports and a review of the literature

2020

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Background: Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births. It is a dysplastic phenomenon with predilections for the proximal two-thirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare entity. Case presentations: Case 1 A 4.5-month-old baby Annang tribe girl was referred in April 2019 to our Radiology Department, University of Uyo Teaching Hospital, Nigeria for lower limb radiographs. This was on account of her shortened left lower limb from birth despite uneventful antenatal history. An examination revealed bulky left thigh with abduction of her left hip joint. Radiographic evaluations showed absent left femoral capital epiphysis, with deficient proximal left femur. A diagnosis of proximal femoral focal deficiency was made. Sadly, the parents and baby failed to honor future orthopedic consultations on intimation of sequential management protocols. Case 2 A 4-month-old baby Ibibio tribe girl was similarly referred in August 2019 to the same Radiology Department for lower limb conventional radiographs due to short left lower limb that was noticed from birth. An examination showed shortened left lower limb in external rotation. Her right and left lower limbs measured 27 cm and 23 cm, respectively, with landmark taken from anterior superior iliac spine to tip of medial malleolus. A diagnosis of proximal femoral focal deficiency was made. Corroborating radiographs showed shortened and hypoplastic left femoral shaft but preserved femoral capital epiphysis. Coincidentally, the parents have not brought back their baby to our orthopedic clinic. Conclusions: The discovery of two cases of proximal femoral focal deficiency, a rare entity, from referrals for conventional radiography in our Radiology Department encourages literature documentation. Such recognition will facilitate early institution of management, thus ensuring meaningful childhood growth.

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Proximal focal femoral deficiency: A case report

Cited by 2 publications

References 0 publications

Isolated unilateral proximal focal femoral deficiency presenting in a young woman

Isolated unilateral proximal focal femoral deficiency presenting in a young woman

Proximal femoral focal deficiency – a rare congenital entity: two case reports and a review of the literature

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