Dogan, MustafaFirinci, FatihBalci, Yasemin IsikZeybek, SelcanOzgurler, FundaErdogan, IlkayVaran, BirgulSemerci, Cavidan Nur2024-03-072024-03-0720140030-9982http://hdl.handle.net/11727/11739Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, growth and developmental retardation, abnormality of complete cleft lip-palate accompanied with Aortic stenosis and PDA, and in which cytogenetic analysis identified premature centromere separation. Mutation analysis of ESCO2 revealed a splice site mutation [c.1131+1G>A] in intron 6 in homozygous status in the patient and heterozygous status in the parents. Our case is the first Robert- Syndrome with valvular aortic stenosis in the literature, to the best of our knowledge.enginfo:eu-repo/semantics/closedAccessRoberts syndromeTetraphocomeliaCleft palateAortic stenosisESCO2article6444574600003333193000222-s2.0-84897134885