Prenatal ultrasound features of Loeys-Dietz syndrome Type 4.
Melissa RussoManisha GandhiHuda B Al-KouatlyShaine Alaine MorrisPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2020)
Loeys-Dietz (LDS) syndromes (types 1-5) are autosomal dominant conditions with pathogenic variants in TGFβR1, TGFβR2, SMAD3, TGFβ2 and TGFβ3 that affect the cardiovascular, musculoskeletal and craniofacial systems. Aortic root dissection is a major cause of mortality in these individuals. Aortic root dilation is often present in childhood and may be recognized in utero. Our case highlights the prenatal ultrasound features of LDS. This article is protected by copyright. All rights reserved.
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