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 2017-12-12  Case of the week # 462  © Emmanuel Julien
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.

23 weeks

Images 1, 2 and 3: 
fetal biometry showing IUGR in the female fetus.


Images 4 and 5: female fetus profile showing cleft palate with color Doppler.


Image 6: 2D image revealed brachydactyly.

Images 7-10, video 1: different 2D views of the fetal heart show small interventricular septal defect.


28 weeks

Images 11 and 12, video 2 and 3: normal profile in the male fetus and abnormal profile of the female fetus showing retrognathia.


Images 13 and 14, video 4: coronal 2D and 3D images of the fetal face showing long eyelashes, the ¨key finding¨ to make the correct diagnosis in this case.


Image 15: 2D image reavealed brachydactyly.

Image 16: comparison of the head circunference between the normal male fetus and growth restricted female fetus.

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