Abstract
Objective. To discuss a patient with a prenatal diagnosis of unilateral isolated femoral focal deficiency. Case. Antenatal diagnosis of unilateral isolated femoral focal deficiency was made at 20 weeks of gestation. The length of left femur was shorter than the right, and fetal femur length was below the fifth percentile. Proximal femoral focal deficiency was diagnosed. After delivery, the diagnosis was confirmed with skeletal radiographs and magnetic resonance imaging. In prenatal ultrasonographic examination, the early recognition and exclusion of skeletal dysplasias is important; moreover, treatment plans should be initiated, and valuable information should be provided to the family.
Highlights
Isolated femoral hypoplasia is a rare congenital limb anomaly with an incidence of 1.1–2 in 100 000 live births
Some cases of femoral hypoplasia that include skeletal malformations may be accompanied by global dysplasia syndromes, and termination of pregnancy may be the only reasonable option in such cases [3]
An important issue is to determine whether isolated femoral abnormality is part of the syndrome
Summary
To discuss a patient with a prenatal diagnosis of unilateral isolated femoral focal deficiency. Antenatal diagnosis of unilateral isolated femoral focal deficiency was made at 20 weeks of gestation. The length of left femur was shorter than the right, and fetal femur length was below the fifth percentile. The diagnosis was confirmed with skeletal radiographs and magnetic resonance imaging. The early recognition and exclusion of skeletal dysplasias is important; treatment plans should be initiated, and valuable information should be provided to the family
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