EP17.09: Prenatal diagnosis of a fetus with Robinow syndrome
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.
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We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.
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Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...
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To cite: Kumar N, Agarwal S, Das V, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016217993 DESCRIPTION A 28 years old primigravida was referred to Department of Obstetrics and Gynaecology, King George’s Medical University, as 35 weeks pregnancy with polyhydramnious with suspected fetal omphalocoele. The defect was diagnosed at 24 weeks at some external ...
متن کاملprenatal diagnosis of chronic granulomatous disease in a male fetus
mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2019
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.21450