Antenatal ultrasonographic diagnosis of hypotelorism

H C Kuo1, F M Chang, C H Wu

  • 1Department of Obstetrics and Gynecology, National Cheng Kung University Medical College, Taiwan, R.O.C.

Hypotelorism is one of the most important fetal anomalies, which deserves early antenatal detection and management. To date, only a few cases of antenatally diagnosed hypotelorism have been reported. In this series, we report a case of hypotelorism and microphthalmia diagnosed prenatally. A 30-year-old female, G1P0, was admitted to our hospital due to chronic bronchitis and a breech presentation of the fetus at 38 weeks of gestation. Routine ultrasound screening revealed hypotelorism. Associated anomalies detected by ultrasound were alobar holoprosencephaly, microcephaly, microphthalmia and oligohydramnios. After delivery, hypotelorism with holoprosencephaly was confirmed, which corresponded with the antenatal ultrasound findings. In conclusion, systemic routine ultrasound screening of fetal orbits is the best way to prenatally detect hypotelorism and microphthalmia.