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The Roberts syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2
- Source :
- Publons
- Publication Year :
- 2014
- Publisher :
- Pakistan Medical Association, 2014.
-
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.
- Subjects :
- 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
Acetyltransferases
death
case report
Humans
cleft lip palate
human
gene
hypoplasia
Aortic stenosis
cardiovascular system examination
Infant
multiple malformation syndrome
Aortic Valve Stenosis
inguinal hernia
finger malformation
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Publons
- Accession number :
- edsair.dedup.wf.001..1e439656ed85e2a439646b4b863cf23f