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Vol. 19, No. 2, 2004
Issue release date: March–April 2004
Fetal Diagn Ther 2004;19:127–130

Prenatal Diagnosis of Apert Syndrome

Hansen W.F. · Rijhsinghani A. · Grant S. · Yankowitz J.
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Iowa Hospitals and Clinics, University of Iowa, Iowa City, Iowa, USA

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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.

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