The Roberts Syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2. | [Journal of Pakistan Medical Association • 2014]

Author(s):

1. Mustafa Dogan: Division of Pediatric Cardiology, School of Medicine, Baskent University, Turkey

2. Fatih Firinci: Department of Pediatrics, School of Medicine, Baskent University, Turkey

3. Yasemin Isik Balci: Department of Pediatrics, School of Medicine, Baskent University, Turkey

4. Selcan Zeybek: Department of Medical Genetics, School of Medicine, Pamukkale University, Turkey

5. Funda Özgürler: Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Baskent University, Turkey

6. Ilkay Erdogan: Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Baskent University, Turkey

7. Birgül Varan: Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Baskent University, Turkey

8. 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.

Page(s): 457-460

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 64, Issue: 4, Year: 2014

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