Abstract
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 and femurs (–2.1 SD). The fetal estimated body weight was 450 g (–1.3 SD). Fetal MRI at 26 weeks of gestation revealed short forearms and hypoplasty of hand fingers. Fetal growth restriction became evident thereafter, leading to intrauterine fetal death occurring at 29 weeks of gestation. A stillbirth baby was of 798 g in body weight and 33.0 cm in length. External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips. The neck appeared short and broad. Finally, CdLS was diagnosed. The prenatal diagnosis might be possible as the arm findings were totally characteristic in a small fetus, regardless of whether an overhanging upper lip was identified. Because CdLS is a rare condition, it is important to consider its possibility as a part of differential diagnosis.
Highlights
The Cornelia de Lange syndrome (CdLS) was first reported by Vrolik in 1849 and Brachmann in 1916, followed by Cornelia de Lange in 1933, after whom the syndrome is named [1,2,3]
We report a case of CdLS where prenatal diagnosis was not made even with major anomaly
Because of a wide range of features of CdLS, its diagnosis is generally performed after birth, it could be suspected by ultrasound examination during the second and third trimester of pregnancy
Summary
The Cornelia de Lange syndrome (CdLS) was first reported by Vrolik in 1849 and Brachmann in 1916, followed by Cornelia de Lange in 1933, after whom the syndrome is named [1,2,3]. CdLS is a clinically variable disorder mainly characterized by distinctive facial features, growth restriction, hirsutism, psychomotor delay, intellectual disability, and malformations of the upper limbs [4]. The diagnosis of CdLS is generally performed after birth, but the syndrome could be suspected during the second and third trimester of pregnancy by observing a wide range of features through ultrasound examination. A previous report showed that a routine prenatal ultrasonography failed to detect more than two-thirds of cases of CdLS with major malformations [5]. We report a case of CdLS where prenatal diagnosis was not made even with major anomaly
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
