Wendy F Hansen1, Asha Rijhsinghani, Stanley Grant, Jerome Yankowitz. 1. 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. Copyright 2004 S. Karger AG, Basel
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. Copyright 2004 S. Karger AG, Basel
Authors: Léon Kabamba Ngombe; Christophe Mwamba Kabamba; David Kakez Nday; Jimmy Ngoie Fundi; Tony Kayembe Kitenge; Luboya Numbi Journal: Pan Afr Med J Date: 2015-04-30