caa a22 4500 445307854 CHVBK 20180317142619.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s00404-010-1643-6 doi (NATIONALLICENCE)springer-10.1007/s00404-010-1643-6 Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature [Elektronische Daten] [Gabriele Tonni, Marco Panteghini, Andrea Rossi, Maurizia Baldi, Cinzia Magnani, Bruno Ferrari, Mario Lituania] Introduction: Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000-1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have been identified. Materials and methods: Two cases occurred in the same family and diagnosed prenatally by means of ultrasound, and antenatal and postnatal MR imaging are reported. Molecular biology regarding identification of craniosynostosis type has been analyzed. A revision of the medical literature is also provided. Conclusion: The premature closure of sagittal suture is characterized by a disproportionately large occipito-frontal and short biparietal diameter (scaphocephaly). The prenatal ultrasound diagnosis of craniosynostosis in utero may be difficult and be suspected when the cephalic index, the cranial shape or the fetal face shape are abnormal. Fetal karyotype is recommended and DNA testing plays a critical role in achieving an appropriate diagnosis, when possible. The prognosis of craniosynostosis is primarily dependent on the presence of associated anomalies as craniosynostosis are correlated with three to fivefold increased risk for cognitive disabilities. Springer-Verlag, 2010 Craniosynostosis nationallicence FGFR nationallicence Prenatal diagnosis nationallicence Ultrasound nationallicence Magnetic resonance imaging nationallicence Molecular biology nationallicence Neurodevelopmental outcome nationallicence Tonni Gabriele Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, AUSL Reggio Emilia, Via Donatori Sangue, 1, 42016, Guastalla (Reggio Emilia), Italy aut Panteghini Marco Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, AUSL Reggio Emilia, Via Donatori Sangue, 1, 42016, Guastalla (Reggio Emilia), Italy aut Rossi Andrea Neuroradiology Service, Gaslini Pediatric Hospital, Genoa, Italy aut Baldi Maurizia Molecular Biology Service, Galliera Hospital, Genoa, Italy aut Magnani Cinzia Neonatal Intensive Care Unit, University of Parma, Parma, Italy aut Ferrari Bruno Department of Obstetrics and Gynecology, University of Parma, Parma, Italy aut Lituania Mario Prenatal Diagnostic Service, Department of Obstetrics and Gynecology, Galliera Hospital, Genoa, Italy aut Archives of Gynecology and Obstetrics Springer-Verlag 283/4(2011-04-01), 909-916 0932-0067 283:4<909 2011 283 404 https://doi.org/10.1007/s00404-010-1643-6 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00404-010-1643-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tonni Gabriele Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, AUSL Reggio Emilia, Via Donatori Sangue, 1, 42016, Guastalla (Reggio Emilia), Italy aut NATIONALLICENCE 700 1- Panteghini Marco Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, AUSL Reggio Emilia, Via Donatori Sangue, 1, 42016, Guastalla (Reggio Emilia), Italy aut NATIONALLICENCE 700 1- Rossi Andrea Neuroradiology Service, Gaslini Pediatric Hospital, Genoa, Italy aut NATIONALLICENCE 700 1- Baldi Maurizia Molecular Biology Service, Galliera Hospital, Genoa, Italy aut NATIONALLICENCE 700 1- Magnani Cinzia Neonatal Intensive Care Unit, University of Parma, Parma, Italy aut NATIONALLICENCE 700 1- Ferrari Bruno Department of Obstetrics and Gynecology, University of Parma, Parma, Italy aut NATIONALLICENCE 700 1- Lituania Mario Prenatal Diagnostic Service, Department of Obstetrics and Gynecology, Galliera Hospital, Genoa, Italy aut NATIONALLICENCE 773 0- Archives of Gynecology and Obstetrics Springer-Verlag 283/4(2011-04-01), 909-916 0932-0067 283:4<909 2011 283 404 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer