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- W2896583837 abstract "Achondroplasia is the most common non-lethal skeletal dysplasia. It is caused by mutation of FGFR3 gene which is located at the short arm of chromosome 4 and it is inherited through autosomal dominant trait. However, de novo mutation of this gene is also found in 80% of the cases. A 27-year-old G3P2 came to our clinic after her fetus has been diagnosed with shortened limbs, enlarged head and heart anomaly. Both parent which were phenotypically normal, was present at the initial examination with us, without any history of short stature in their family. A term male neonate was delivered with frontal bossing and shortened extremities without respiratory distress. Prenatal ultrasound is a useful method to diagnose skeletal dysplasias, especially in differentiating the non-lethal from lethal skeletal dysplasias. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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- W2896583837 date "2018-10-01" @default.
- W2896583837 modified "2023-10-18" @default.
- W2896583837 title "EP06.26: Prenatal diagnosis of achondroplasia: case report" @default.
- W2896583837 doi "https://doi.org/10.1002/uog.19871" @default.
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