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Case Report
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene
Jung Sook Ha, Yeo Hyang Kim
Clin Exp Pediatr. 2011;54(6):272-275.   Published online June 30, 2011

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is...

A Case of Tuberous Sclerosis associated with Abdominal Aneurysm
Eun Jeong Lee, So Jeong Yim, Sun Mi Kim, Dae Chul Jeong, Jin Han Kang, Seung Yun Chung
Clin Exp Pediatr. 2004;47(5):583-587.   Published online May 15, 2004
Tuberous sclerosis(TS) is known to be associated with multi-organ involvements, such as neurologic, renal and cardiac abnormalities. Abdominal aortic aneurysms in children and young adults are uncommon, however, some have been observed in patients with TS. We present an 8 month-old female patient with TS who developed aortic aneurysm and underwent successful surgical management. Since an aortic aneurysm is potentially...


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