A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis

• Main Authors: Tadatsugu Kinjo (Author), Keiko Mekaru (Author), Miyuki Nakada (Author), Hayase Nitta (Author), Hitoshi Masamoto (Author), Yoichi Aoki (Author)
• Format: Book
• Published: Hindawi Limited, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri...