The Roberts Syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2

Roberts 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.