Browsing by Author "Firinci, Fatih"

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    The Roberts Syndrome: A Case Report of an Infant with Valvular Aortic Stenosis and Mutation in ESCO2
    (2014) Dogan, Mustafa; Firinci, Fatih; Balci, Yasemin Isik; Zeybek, Selcan; Ozgurler, Funda; Erdogan, Ilkay; Varan, Birgul; Semerci, Cavidan Nur; https://orcid.org/0000-0002-6719-8563; 24864645; ABB-1767-2021
    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.