지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.9
- 수록면
- 151 - 155 (5page)
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초록· 키워드
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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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등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Loeys BL / 2005 / A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 / Nat Genet 37:275~281
Lindsay ME / 2012 / Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm / Nat Genet 44:922~927
Bradley TJ / 2016 / The expanding clinical spectrum of extracardiovascular and cardiovascular manifestations of heritable thoracic aortic aneurysm and dissection / Can J Cardiol 32:86~99
Koenigsberg M / 1981 / Fetal Marfan syndrome : prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions / Prenat Diagn 1:241~247
Bender RM / 2012 / Sonographic prenatal diagnosis of congenital Marfan syndrome / Proc Obstet Gynecol 2:1~7
Lindsay ME / 2012 / Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm / Nat Genet 44:922~927
Bradley TJ / 2016 / The expanding clinical spectrum of extracardiovascular and cardiovascular manifestations of heritable thoracic aortic aneurysm and dissection / Can J Cardiol 32:86~99
Koenigsberg M / 1981 / Fetal Marfan syndrome : prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions / Prenat Diagn 1:241~247
Bender RM / 2012 / Sonographic prenatal diagnosis of congenital Marfan syndrome / Proc Obstet Gynecol 2:1~7
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