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: Mustafa Dogan, Fatih Firinci, Yasemin Isik Balci, Selcan Zeybek, Funda Ozgürler, Ilkay Erdogan, Birgül Varan, Cavidan Nur Semerci
• Journal: JPMA. The Journal of the Pakistan Medical Association (J Pak Med Assoc) Vol. 64 Issue 4 Pg. 457-60 (Apr 2014) ISSN: 0030-9982 [Print] Pakistan
• PMID: 24864645 (Publication Type: Case Reports, Journal Article)

Chemical References

• Chromosomal Proteins, Non-Histone
• Acetyltransferases
• ESCO2 protein, human

Topics

• Acetyltransferases (genetics)
• Aortic Valve Stenosis (etiology, genetics, therapy)
• Balloon Valvuloplasty
• Chromosomal Proteins, Non-Histone (genetics)
• Craniofacial Abnormalities
• Ectromelia
• Fatal Outcome
• Humans
• Hypertelorism
• Infant
• Male