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KMID : 1101620210320030151
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Perinatology
2021 Volume.32 No. 3 p.151 ~ p.155
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Prenatal Diagnosis of an Ascending Aortic Aneurysm Inherited from the Father: A Case Report of Loeys-Dietz Syndrome Type 1
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Sim Yu-Kyoung
Lee Dong-Hyeon
Kim JIn-Kyu
Chae Hee-Suk
Lee Jeong-Heon
Jeong Young-Ju
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Abstract
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Inherited aortic aneurysms are very rare during fetal life. If an aortic aneurysm is seen on prenatal ultrasound, the differential diagnosis of hereditable connective tissue disorders, such as Loeys-Dietz syndrome, Marfan syndrome, and vascular Ehlers-Danlos syndrome should be considered. Recently, we experienced a case of an ascending aortic aneurysm on prenatal ultrasound which was diagnosed as Loeys-Dietz syndrome type 1 by next generation sequencing. Herein, we present the prenatal and postnatal images including ultrasound scan, computed tomography angiography, and magnetic resonance angiography, and discuss the differential diagnoses of the above-mentioned hereditary connective tissue disorders.
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KEYWORD
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Aortic aneurysm, Connective tissue diseases, Loeys-Dietz syndrome, Prenatal diagnosis, Receptors, transforming growth factor beta
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