2017-12-12 Case of the week # 462 © Emmanuel Julien www.TheFetus.net
Answer to the case of the week # 462
January 18, 2018 - February 1, 2018
Emmanuel Julien, MD.
Case report
A 29-year-old woman (G2P1) without consanguinity and unremarkable hisory. The patient received induced ovulation and the pregnancy was dichorionic diamniotic (a boy and girl). She was sent to our office at 23 weeks of gestation for suspected early IUGR in the female fetus with normal Doppler examination.
In our ultrasound examinations at 23 and 28 weeks of pregnancy, we confirmed early IUGR and we saw in the female fetus microcephaly without brain abnormalities, microretrognathia, a long convex philtrum, interventriculas septa defect and brachydactyly of the hands.
An amniocentesis was done and the result was normal.
We performed another ultrasound examination at 28 weeks and same findings were present but also we found long eyelashes and the diagnosis of Cornelia De Lange syndrome was suspected and the parents informed.
An MRI was done and no other abnormalities were seen.
TOP was induced at 30 weeks of pregnancy. The mother gave birth to a surviving baby boy at 37 weeks (2630 gr.) and no anomalies were detected.
Genetic research found the most frequent mutation NIPBL on the short arm of chromosome 5 in the female fetus, confirming our prenatal diagnosis.