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- W2584403950 abstract "What's Already Known About This Topic? Costello syndrome is a rare multisystem disorder, which is usually diagnosed by postnatal findings including macrosomia, significant failure to thrive, developmental and intellectual disability, coarse facial features, cardiac and skin abnormalities and short stature as well as a susceptibility to childhood and adult malignancy. Prenatal genetic diagnosis of this condition is very rare, and the diagnosis is most commonly established in childhood. What Does This Study Add? We report a case of a prenatal molecular confirmation of Costello syndrome in the second trimester of pregnancy. The clinical diagnosis was first suspected on fetal ultrasonographic features including unilateral ventriculomegaly, polyhydramnios, macrocephaly and macrosomia with relatively shortened long bones. To the best of our knowledge, this is the first report in the medical literature of prenatal diagnosis of Costello syndrome involving the recurrent HRAS missense mutation p.Gly12Ser. © 2017 John Wiley & Sons, Ltd." @default.
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- W2584403950 date "2017-02-23" @default.
- W2584403950 modified "2023-09-24" @default.
- W2584403950 title "Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent<i>HRAS</i>mutation p.Gly12Ser" @default.
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- W2584403950 doi "https://doi.org/10.1002/pd.5009" @default.
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