Two Chinese Patients with Loeys-Dietz Syndrome: A Connective Tissue Disorder with Marfan-like Features and Vasculopathy

摘要

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterised by unique facial dysmorphology and aggressive vasculopathy. It is caused by mutations in genes encoding transforming growth factor beta receptor Type 1 or Type 2 ( TGFBR1 and TGFBR2 ). There is substantial phenotypic overlap with other connective tissue disorders, especially Marfan syndrome. We present 2 patients whom we previously reported to have Marfan-like phenotype. They were reassessed clinically and molecularly and confirmed to have Loeys-Dietz syndrome. It is of vital importance for paediatricians to recognise this recently described con nec tive tissue disorder in order to provide appropriate surveillance and early intervention to improve the prognosis.