一名胎儿患有FGFR3基因c.2419T>G（p.Ter807Gly）（X807G）突变的1型致死性骨发育不全的围产期影像学表现及分子遗传学分析

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.

作者信息

Chen Shin-Wen, Chen Chih-Ping, Wang Liang-Kai, Chern Schu-Rern, Wu Pei-Chen, Chen Yen-Ni, Lin Chen-Ju, Chen Wen-Ling, Wang Wayseen

机构信息

Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.

Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2017 Feb;56(1):87-92. doi: 10.1016/j.tjog.2016.12.013.

DOI:10.1016/j.tjog.2016.12.013

PMID:28254233

Abstract

OBJECTIVE

We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus.

CASE REPORT

A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. A tentative diagnosis of TD1 was made. After genetic counseling, the pregnancy was terminated and a malformed fetus was delivered. Postnatal radiography findings were consistent with the diagnosis of TD1, with additional findings of short ribs, platyspondyly, and horizontal acetabular roofs. Molecular genetic analysis using umbilical cord tissue revealed a heterozygous mutation of c.2419T>G (p.Ter807Gly) (X807G) in the fibroblast growth factor receptor 3 gene (FGFR3).

CONCLUSION

A second-trimester fetus with a heterozygous c.2419T>G mutation in FGFR3 may present characteristic ultrasound and X-ray findings of TD1.

摘要

目的

我们展示了一例胎儿I型致死性骨发育不全（TD1）的围产期影像学表现及分子遗传学分析。

病例报告

一名28岁女性在妊娠22周时因产前超声检查异常被转诊进行遗传咨询。二级超声检查显示胸廓狭窄、四肢长骨缩短且弯曲、腹部膨隆和巨头畸形。初步诊断为TD1。经过遗传咨询后，终止妊娠并娩出一个畸形胎儿。产后X线检查结果与TD1诊断相符，还发现了肋骨短小、椎体扁平及髋臼顶水平等额外表现。使用脐带组织进行的分子遗传学分析显示，成纤维细胞生长因子受体3基因（FGFR3）存在c.2419T>G（p.Ter807Gly）（X807G）杂合突变。