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2019-06-20  Case of the week # 499  © Lusine Karapetyan

Answer to the case of the week # 499
July 4, 2019 - July 18, 2019

City hospital named after E.O.Muhin, Moscow, Russia

Case report

A 38-year-old woman (G3P2) was sent to our unit for her first-trimester scan at 12 weeks of pregnancy. Her first-trimester calculated risk for trisomies 21,18 and 13 was high, b-HCG - 0,6, PAPP-A - 0,3. 

Subsequent amniocentesis revealed normal karyotype (46XY) and CGH study didn’t reveal any abnormality either.

Our ultrasonographic examinations at 12 and 20 weeks revealed:

  1. Severe micro/retrognathia with mandibular spur
  2. Dysmorphic facial features: hypertelorism, long convex philtrum, thin lips with downturned lip corners, anteverted nares, depressed nasal bridge.
  3. Bilateral diaphragmatic hernia - stomach and bowel loop  located in the left thorax, liver located in the right and left thorax, anterior displacement of the heart with a minimal lateral shift; diaphragm was visible only in the anterior part.
  4. Small hands with brachydactyly
  5. Cleft palate was suspected 

Parents opted for termination of the pregnancy (TOP) at 20 weeks. After the TOP the whole exome sequencing test revealed heterozygous mutation in exon 10 in the NIPBL gene resulting in a frameshift mutation, which is associated with Cornelia de Lange Syndrome.

Images 1 and 2: show micro/retrognathia and enlarged nuchal translucency.


Images 3-9: show typical facial appearance of the Cornelia de Lange syndrome – long convex philtrum, short nose with anteverted nares, depressed nasal bridge, mandibular spur, bilateral diaphragmatic hernia and small displaced lungs. Hypoplastic male genitalia and small hands with brachydactyly were also seen.

Videos 1-4: showing enlarged nuchal translucency and bilateral diaphragmatic hernia.

Images 10-14: postmortem appearance of the aborted fetus revealed bushy eyebrows with synophrys and small hands which are typical for patients with the Cornelia de Lange syndrome, and cleft palate. Diaphragm was preserved only in it’s anterior part and stomach with liver and bowel loops were seen in the thoracic cavity along both sides of the heart. Both lungs were hypoplastic.
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