Prenatal diagnosis of campomelic dysplasia

A pregnant woman of 24 weeks' gestation underwent ultrasound examination fo r fetal anomaly screening. The ultrasound findings revealed a single fetus with biparietal diameter of 61 mm, which was consistent with menstrual date s. The thoracic cage was small compared to the abdomen with hypoplastic sca pulae and normally ossified unfractured ribs. All bony structures demonstra ted normal echogenicity. The upper long bones were normal length and shape. Both femurs and tibiae were obviously bowed anteriorly and slightly shorte ned. Bilateral talipes equinovarus were clearly demonstrated. A prenatal di agnosis of campomelic dysplasia was made and was confirmed by postnatal rad iography and autopsy. The sonographic diagnosis in this case was based on t he findings of small thorax, hypoplastic scapulae and bowed tibiae and femu rs.