Prenatal diagnosis of Apert syndrome.
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.


METHODS
We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available.


CONCLUSIONS
Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.
Hansen
Wendy F
WF
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
Rijhsinghani
Asha
A
Grant
Stanley
S
Yankowitz
Jerome
J
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D016216:Ultrasonography, Prenatal / Q000379:methods*
D017468:Receptors, Fibroblast Growth Factor