Femoral Hypoplasia with Unusual Facies Syndrome

Early Recognition of a Rare Fetal Skeletal Syndrome

A Fetal Well-Being Ultrasound was performed at 15–16 weeks of gestation as part of prenatal evaluation.

Detailed fetal assessment revealed the following findings:

• Bilateral femoral hypoplasia
• Micrognathia
• Clubfoot (CTEV)

The combination of these ultrasound findings was suggestive of Femoral Hypoplasia with Unusual Facies Syndrome, a rare congenital condition characterized by distinctive facial features and abnormalities involving the femur development.

This case highlights the importance of a meticulous early second-trimester fetal ultrasound examination. Identifying characteristic patterns of anomalies can help in recognizing rare syndromes, enabling appropriate counseling, further evaluation, and pregnancy management planning.

Diagnosed by: Dr. Garima Bansal Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India