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Orthopaedics · Paediatric orthopaedics: proximal femoral focal deficiency
Sample itemA newborn has a markedly short right thigh held flexed, abducted and externally rotated. A radiograph shows absence of the proximal femoral segment with a normal acetabulum fully formed on the other side. What is the likely diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Proximal femoral focal deficiency
Proximal femoral focal deficiency is a congenital failure of formation of part of the proximal femur, leaving a short, bulky thigh with an unstable hip and often an associated fibular hemimelia. Management is directed at prosthetic fitting, sometimes after Syme amputation or rotationplasty. Dysplasia of the hip does not remove the femoral segment.
Option by option
A. Proximal femoral focal deficiency (correct)
Correct. A congenitally absent proximal femoral segment with a short thigh is characteristic.
B. Congenital coxa vara
Congenital coxa vara has a reduced neck-shaft angle with a present femoral neck.
C. Perthes disease
Perthes disease occurs at 4 to 8 years from avascular necrosis.
D. Developmental dysplasia of the hip
Developmental dysplasia has a normal femur with a shallow or dislocated hip.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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