A case of third trimester diagnosis of Cornelia de Lange syndrome

Abstract

Aim: The objective is to present a rare case of late diagnosis of Cornelia de Lange syndrome.

Case: A 27-year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios. The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor facial dysmorphisms, limb abnormalities, and hypertrichosis. The fetus died 1 week post-diagnosis due to unknown reason and the woman underwent an induction of labor. Postmortem examination confirmed the diagnosis of Cornelia de Lange syndrome.

Conclusion: The prognosis of the syndrome is severe. Termination of pregnancy before viability is proposed. Genetic counseling is necessary.