title: The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.
abstract: 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.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Dogan
authors.forename: Fatih
authors.initials: F
authors.lastname: Firinci
authors.forename: Yasemin Isik
authors.initials: YI
authors.lastname: Balci
authors.forename: Selcan
authors.initials: S
authors.lastname: Zeybek
authors.forename: Funda
authors.initials: F
authors.lastname: Ozgürler
authors.forename: Ilkay
authors.initials: I
authors.lastname: Erdogan
authors.forename: Birgül
authors.initials: B
authors.lastname: Varan
authors.forename: Cavidan Nur
authors.initials: CN
authors.lastname: Semerci
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D001024:Aortic Valve Stenosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D063126:Balloon Valvuloplasty; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D019465:Craniofacial Abnormalities; D004480:Ectromelia; D017809:Fatal Outcome; D006801:Humans; D006972:Hypertelorism; D007223:Infant; D008297:Male
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D000123:Acetyltransferases; C500785:ESCO2 protein, human