Prenatal Diagnosis of Cornelia de Lange Syndrome by 2D and 3D Sonography

Abstract

Cornelia de Lange syndrome, also known as Brachmann–de Lange syndrome, is a congenital condition characterized by pre- and postnatal growth deficiency, limb deformities, typical face features, hirsutism, behavioral problems, cognitive delay, and failure to thrive after birth. This developmental genetic disorder ranges from mild to fatal with unknown etiology. The sonographic prenatal findings in a case of Cornelia de Lange syndrome at 22 weeks’ gestation, which demonstrated facial dysmorphism, upper and lower limb abnormalities, growth retardation, and cardiac abnormality and confirmed at 32 weeks and 2 days of gestation and at autopsy, are discussed. Fetal karyotyping was normal. Because 2D sonography is the primary imaging modality for evaluating the growing fetus, it is possible to use 3D sonography to precisely evaluate the facial dysmorphism and limb defects and make a specific diagnosis of this entity.