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The following videos and images show the absent right femur with fibular hemimelia and clubfoot and, the hypoplastic left femur with normal fibula and tibia. Parents decided to continue in pregnancy. Later in the 16th. week of pregnancy abnormal facial profile was suspected, which was classified as normal after birth. The postnatal diagnosis was bilateral proximal femoral deficiency with fibular hemimelia. The differential diagnosis included also femoral hypoplasia unusual face.

Proximal femoral deficiency is a rare congenital syndrome. Its incidence is about 0,11-0,2 per 10,000 births. Etiologic factors include diabetes mellitus, viral infections including COVID-19, exposure to thalidomide, and chemical toxicity. Bilateral condition is very rare. Associated abnormalities include fibular hemimelia, spinal deformities, clubfoot, and syndactyly.

Literature:

Doğer E, Köpük SY, Cakıroğlu Y, Cakır O, Yücesoy G. Unilateral isolated proximal femoral focal deficiency. Case Rep Obstet Gynecol. 2013;2013:637904.

Uduma FU, Dim EM, Njeze NR. Proximal femoral focal deficiency - a rare congenital entity: two case reports and a review of the literature. J Med Case Rep. 2020 Feb 05;14(1):27.

Özdemir M, Kavak RP, Ceylan AH, Cevval ZK. Isolated unilateral proximal focal femoral deficiency presenting in a young woman. BMJ Case Rep. 2020 Jan 21;13(1)

Gerscovich EO, Sekhon S, Loehfelm TW, Greenspan A. Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency. J Ultrason. 2017 Dec;17(71):294-298.

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