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- W2274010303 abstract "Background: We previously reported 6 patients with Marfan-like phenotype due to transforming growth factor b-receptor 2 (TGFBR2) mutations (Am J Med Genet Part A 149A:1452-1459). Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant connective tissue disorder characterized by facial dysmorphism, cleft palate, aortic dilatation, blood vessel tortuosity and a high risk of aortic dissection. It is caused by mutations in the TGFBR1 and 2 genes. Two of the 6 patients reported in 2009 were re-assessed and confirmed to have phenotypic features of LDS. Clinical information: K.T.H. and T.W.S. (Patient 4 and 5 in AJMG 149A:1452-1459) both presented with asymptomatic murmur and marfanoid features in their childhood. In addition they have unique craniofacial features including craniosynostosis, hypertelorism and bifid uvula. They did not fulfill the Ghent or modified Ghent criteria. Both have significant progressive aortic root dilatation requiring surgical replacement in adolescence. K.T.H. had a missense mutation c.1069G>A/p.G357R in TGFBR2 gene while T.W.S. also had a missense mutation c.973A>C/p.T325P in the same gene. Conclusion: The arterial involvement of LDS is more extensive and the propensity to rupture is higher when compared to Marfan syndrome. A third of LDS patients can presented with aortic dissection or death before 19 years of age. The youngest age of presentation was 6 months and aortic dissection can occur when the aortic root is <4 cm. LDS patients are also prone to cerebral/abdominal arterial dissection and cervical spine instabilities. It is important to recognize LDS as a differential diagnosis of Marfan-like phenotypes so that accurate genetic counseling, lifelong surveillance and timely surgical intervention can be offered. Astragaloside IV Enhanced Haematopoiesis via the EGFR-MEK-EKR1/2 Signalling Pathway RX DENG, GCF CHAN, JG SHEN, JY YE, M MA, JL CHEN, C LIU, CM DEE, M YANG Department of Paediatrics and Adolescent Medicine, School of Chinese" @default.
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- W2274010303 date "2011-01-01" @default.
- W2274010303 modified "2023-09-28" @default.
- W2274010303 title "Two Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations" @default.
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