PDF(Pubmed)
Abstract：
Trisomy 18 is known for its severe prognosis, with most affected infants not surviving beyond a week, but this report sheds light on a remarkable case of a two-and-a-half-year-old girl born with Trisomy 18 who has thrived due to specialized medical care. Despite a complex medical profile, including congenital heart defects and hepatoblastoma, this patient underwent successful treatments, including multiple surgeries and chemotherapy. This case report showcases how modern medical advancements and multidisciplinary care can defy the historically grim prognosis associated with Trisomy 18, providing hope for improved outcomes and a better quality of life (QOL) for affected individuals and their families.
摘要：
18三体以其严重的预后而闻名，受影响最大的婴儿无法存活超过一周，但是这份报告揭示了一个值得注意的案例，一个两岁半的女孩出生时患有18三体综合征，由于专门的医疗护理而茁壮成长。尽管医学资料复杂，包括先天性心脏缺陷和肝母细胞瘤,这个病人接受了成功的治疗,包括多次手术和化疗.本病例报告展示了现代医学进步和多学科护理如何无视与18三体相关的历史严峻预后，为受影响的个人及其家人提供改善的结果和更好的生活质量（QOL）的希望。
