title: Prenatal diagnosis of Apert syndrome.
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.
  
  
  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.
authors.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
authors.forename: Wendy F
authors.initials: WF
authors.lastname: Hansen
authors.forename: Asha
authors.initials: A
authors.lastname: Rijhsinghani
authors.forename: Stanley
authors.initials: S
authors.lastname: Grant
authors.forename: Jerome
authors.initials: J
authors.lastname: Yankowitz
mesh_terms: 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*
chemical_list: D017468:Receptors, Fibroblast Growth Factor