VP32.09: Bilateral diaphragmaitc hernia in a case of Cornelia de Lange syndrome

Abstract

A 38-year-old was sent to our unit for the first trimester scan at 12 weeks pregnancy. The first trimester calculated risk for trisomies was high; b-HCG-0,6 and PAPP-A-0,3. Subsequent amniocentesis revealed normal caryotype 46 XY. Array-comparative genomic hybridisation study didnt reveal any abnormality as well. Our scanning at 12 and 20 weeks revealed severe micrognathia (at 12 weeks) with mandibular spur (20 weeks), dysmorphic facial features such as hypertelorism, long convex philtrum, anteverted nares, depressed nasal bridge, thin lips with downturned lip corners at 20 weeks. Scanning at 20 weeks also revealed bilateral diaphragmatic hernia, stomach and bowel loops located in the left hemithorax, liver located in the right and left hemithorax, anterior displacement of the heart with minimal lateral shift, diaphragm was visible only at its anterior part, small hands with brachydactyly, cleft palate was suspected. After TOP the WES test revealed heterozygous mutation in exon 10 in the NIPBL gene resulting in a frameshift mutation, which is associated with Cornelia de Lange syndrome. Postmortem appearance of the abortus revealed also bushy eyebrows with synophrys, small hands and cleft palate. Diaphragm was presented only at its anterior part. Bilateral diaphragmatic hernia was confirmed. Supporting information can be found in the online version of this abstract Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.