ACC Ho, SY Chan, PC Chow, KT Wong, KS Lun, IFM Lo, STS Lam, KT Chau, YL Lau, BHY Chung

Abstract

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 connective tissue disorder in order to provide appropriate surveillance and early intervention to improve the prognosis.

Loeys-Dietz綜合徵（LDS）是一種常見的染色體顯性遺傳的結締組織疾病，臨床表現為獨特的面部畸形和侵襲性的血管病變。它是由編碼1型或2型轉化生長因數β受體（TGFBR1或TGFBR2）的基因突變造成的。它與其他結締組織疾病，尤其是馬凡綜合症在表型上有很多重疊的地方。我們這裏報導的兩例為曾被確診為馬凡綜合症樣表型的病人，其後對其進行臨床和分子重新評估後，確診其有Loeys-Dietz綜合徵。兒科醫生能認識到這種近期闡述的結締組織疾病是至為重要的，從而為病人提供適當的檢測和早期治療以改善患者的預後。