• Kiyoshi Uike, Yuki Matsushita, Yasunari Sakai, Osamu Togao, Michinobu Nagao, Yoshito Ishizaki, Hazumu Nagata, Kenichiro Yamamura, Hiroyuki Torisu, and Toshiro Hara.
• Department of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan. ysakai22q13@gmail.com.
• BMC Res Notes. 2013 Nov 12; 6: 456.

BackgroundLoeys-Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2).Case PresentationWe report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries.ConclusionThis study depicts the systemic vascular phenotypes of a child with Loeys-Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys-Dietz syndrome.

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