致死性侏儒-附三例报告  

Thanatophoric dysplasia :three cases report

作　　者：何丽娟[1] 李冬至[1] 梁德民[1] 高秋[1] 曹毅[1] 

机构地区：[1]广州市妇婴医院病理科优生围产研究所,广东510180

出　　处：《中国优生与遗传杂志》2008年第2期94-95,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究致死性侏儒的临床、影像学、致病基因和病理学表现。方法复习1438例尸检中诊断为致死性侏儒的3例作回顾性研究。结果致死性侏儒胎儿长骨极短,可有不同程度的弯曲,四肢软组织堆积,胸腔狭小、肋骨短,心胸比例大于正常,腹部膨隆,头颅大、前额突,塌鼻。结论致死性侏儒是一种最常见的致死性短肢畸形,由纤维母细胞生长因子受体3(FGFR3)基因突变所致,具有明确的临床、影像学和病理学特征。Objective： To study the clinical, radiographic, molecular and pathologic characteristics of thanatophoric dysplasia. Methods： Retrospective review of three cases of thanatophoric dysplasia. Results： Thanatophoric dysplasia was characterized by extremely short limbs, a narrow thorax, limb skin redundancy, a relatively large head with frontal bossing and depressed nasal bridge, and protuberant abdomen. One case had a heterozygous R248C mutation in the FGFR3 gene. Results and conclusion： Thanatophoric dysplasia had figures of clinical, radiographic, molecular and pathologic changes.

关 键 词：致死性侏儒 基因突变 成纤维细胞生长因子受体3 畸形 

分 类 号：R714.7[医药卫生—妇产科学]