Complex cardiac malformation in a case of trisomy 9.
نویسندگان
چکیده
منابع مشابه
Complex cardiac malformation in a case of trisomy 9.
A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skeletal, genital, and renal systems. There is no evidence for a maternal age effect.
متن کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
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This is a case report of a foetus which was brought for postmortem evaluation following antenatal detection of a complex cardiac defect. Presence of dysmorphism and other malformations like gut malrotation, bladder outlet obstruction, and esophageal stenosis led to suspicion of a syndromic diagnosis. Fetal karyotyping confirmed a diagnosis of Trisomy 18 (Edwards syndrome). This facilitated appr...
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Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
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Background: Vein of Galen aneurysm (VGA) is the most common form of symptomatic cerebrovascular malformation in neonates. It develops in a fetus in the first trimester of pregnancy due to unknown reasons, but it is likely to have a genetic etiology. The prognosis of VGA is usually poor, particularly in newborns with heart failure due to high-flow intracerebral shunt. Surgery and endovascular em...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1985
ISSN: 1468-6244
DOI: 10.1136/jmg.22.3.230