Prenatal diagnosis of Apert syndrome

被引：15
|
作者：
Hansen, WF [1 ]
Rijhsinghani, A [1 ]
Grant, S [1 ]
Yankowitz, J [1 ]
机构：
[1] Univ Iowa Hosp & Clin, Dept Obstet & Gynecol, Div Maternal Fetal Med, Iowa City, IA 52242 USA
来源：
FETAL DIAGNOSIS AND THERAPY | 2004年 / 19卷 / 02期
关键词：
Apert syndrome; craniosynostosis; syndactyly; fibroblast growth factor receptor-2;
D O I：
10.1159/000075135
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. Method: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. Results and Conclusion: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias. Copyright (C) 2004 S. Karger AG, Basel.
引用
收藏
页码：127 / 130
页数：4
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