The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.
Copyright policy )The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.
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.
- Pamukkale University Turkey
Male, Chromosomal Proteins, Non-Histone, diarrhea, X ray analysis, sepsis, Craniofacial Abnormalities, Roberts syndrome, Fatal Outcome, pulmonary hypertension, echocardiography, tricuspid valve regurgitation, gene mutation, thumb malformation, phocomelia, Hypertelorism, pulmonary artery stenosis, mitral valve regurgitation, article, chromosome analysis, transluminal valvuloplasty, systolic heart murmur, flexion contracture, pes equinovarus, Cleft palate, centromere, head and neck malformation, Tetraphocomelia, penis disease, lung insufficiency, Balloon Valvuloplasty, Ectromelia, growth retardation, aorta valve stenosis, ESCO2, skeleton malformation, ESCO2 gene, patent ductus arteriosus, genital system examination, hydrocele, male, Acetyltransferases, death, case report, Humans, cleft lip palate, human, gene, hypoplasia, Aortic stenosis, cardiovascular system examination, Infant, multiple malformation syndrome, Aortic Valve Stenosis, infant, inguinal hernia, finger malformation
Male, Chromosomal Proteins, Non-Histone, diarrhea, X ray analysis, sepsis, Craniofacial Abnormalities, Roberts syndrome, Fatal Outcome, pulmonary hypertension, echocardiography, tricuspid valve regurgitation, gene mutation, thumb malformation, phocomelia, Hypertelorism, pulmonary artery stenosis, mitral valve regurgitation, article, chromosome analysis, transluminal valvuloplasty, systolic heart murmur, flexion contracture, pes equinovarus, Cleft palate, centromere, head and neck malformation, Tetraphocomelia, penis disease, lung insufficiency, Balloon Valvuloplasty, Ectromelia, growth retardation, aorta valve stenosis, ESCO2, skeleton malformation, ESCO2 gene, patent ductus arteriosus, genital system examination, hydrocele, male, Acetyltransferases, death, case report, Humans, cleft lip palate, human, gene, hypoplasia, Aortic stenosis, cardiovascular system examination, Infant, multiple malformation syndrome, Aortic Valve Stenosis, infant, inguinal hernia, finger malformation
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