Article Detail — Pakistan Science Abstracts

Choose Theme

Theme 1 — Green & Gold

No Detail Found!
The Roberts Syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2.
Author(s)
Mustafa Dogan Division of Pediatric Cardiology, School of Medicine, Baskent University, Turkey
Fatih Firinci Department of Pediatrics, School of Medicine, Baskent University, Turkey
Yasemin Isik Balci Department of Pediatrics, School of Medicine, Baskent University, Turkey
Selcan Zeybek Department of Medical Genetics, School of Medicine, Pamukkale University, Turkey
Funda Özgürler Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Baskent University, Turkey
Ilkay Erdogan Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Baskent University, Turkey
Birgül Varan Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Baskent University, Turkey
Cavidan Nur Semerci Department of Medical Genetics, School of Medicine, Pamukkale University, Turkey
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 RobertsSyndrome 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.
Publication Details
Page(s) 457-460
DOI DOI not available
Published Journal: Journal of Pakistan Medical Association, Volume: 64, Issue: 4, Year: 2014
Keywords
Keywords are not available for this article.
References
References are not available for this document.
Citations
Citations are not available for this document.
0

Citations

0

Downloads

35

Views

Copyright ©  PASTIC National Center, Islamabad www.pastic.gov.pk