The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.
J Pak Med Assoc
; 64(4): 457-60, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-24864645
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estenose da Valva Aórtica
/
Acetiltransferases
/
Proteínas Cromossômicas não Histona
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pak Med Assoc
Ano de publicação:
2014
Tipo de documento:
Article