Mustafa Dogan, Fatih Firinci, Yasemin Isik Balci, Funda Ozgurler, Selcan Zeybek, Cavidan Nur Semerci, Ilkay Erdogan, Birgul Varan.
The Roberts Syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2.
J Pak Med Assoc Jan ;64(4):457-60.

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.

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