Hansen Wendy F, Rijhsinghani Asha, Grant Stanley, Yankowitz Jerome
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Iowa Hospitals and Clinics, University of Iowa, Iowa City, Iowa 52242-1080, USA.
Fetal Diagn Ther. 2004 Mar-Apr;19(2):127-30. doi: 10.1159/000075135.
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.
We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available.
Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.
探讨人类成纤维细胞生长因子受体（FGFR）基因家族在当前颅缝早闭综合征和骨骼发育异常的产前诊断及管理中的作用。
我们介绍了2例Apert综合征在分子产前诊断前后的产前超声检查结果、诊断及管理情况。
FGFR基因突变的发现现在使得Apert综合征、其他颅缝早闭综合征和骨骼发育异常的明确产前诊断成为可能。
