Early prenatal ultrasound diagnosis of cleidocranial dysplasia.

Abstract

A woman was referred in the first trimester of her third pregnancy because of a family history of cleidocranial dysplasia. An ultrasound examination at 14 weeks 4 days revealed a fetus with appropriate biometric measurements. However, the clavicles were noted to be hypoplastic and the cranium appeared less well ossified than expected for gestational age, suggesting the diagnosis of cleidocranial dysplasia. On subsequent examination at 21 weeks, the findings were essentially unchanged. Induced vaginal delivery owing to decreased amniotic fluid volume occurred at 37 weeks, and a female weighing 3200 g was delivered. The infant had clinical and X-ray signs of cleidocranial dysplasia.