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Archives of Gynecology and Obstetrics

, Volume 283, Issue 4, pp 909–916 | Cite as

Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature

  • Gabriele Tonni
  • Marco Panteghini
  • Andrea Rossi
  • Maurizia Baldi
  • Cinzia Magnani
  • Bruno Ferrari
  • Mario Lituania
Short Communication

Abstract

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.

Keywords

Craniosynostosis FGFR Prenatal diagnosis Ultrasound Magnetic resonance imaging Molecular biology Neurodevelopmental outcome 

Notes

Conflict of interest

None.

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Gabriele Tonni
    • 1
  • Marco Panteghini
    • 1
  • Andrea Rossi
    • 2
  • Maurizia Baldi
    • 3
  • Cinzia Magnani
    • 4
  • Bruno Ferrari
    • 5
  • Mario Lituania
    • 6
  1. 1.Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil HospitalAUSL Reggio EmiliaGuastalla (Reggio Emilia)Italy
  2. 2.Neuroradiology ServiceGaslini Pediatric HospitalGenoaItaly
  3. 3.Molecular Biology ServiceGalliera HospitalGenoaItaly
  4. 4.Neonatal Intensive Care UnitUniversity of ParmaParmaItaly
  5. 5.Department of Obstetrics and GynecologyUniversity of ParmaParmaItaly
  6. 6.Prenatal Diagnostic Service, Department of Obstetrics and GynecologyGalliera HospitalGenoaItaly

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