Prenatal diagnosis of Apert syndrome |
| |
| Authors: | Hansen Wendy F Rijhsinghani Asha Grant Stanley Yankowitz Jerome |
| |
| Affiliation: | 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. wendy-hansen@uiowa.edu |
| |
| Abstract: | 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. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
