当前位置： SCI文献检索 > ARCHIVES OF GYNECOLOGY AND OBSTETRICS期刊下所有文献 > Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.

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

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.

journal_name

Arch Gynecol Obstet

journal_title

Archives of gynecology and obstetrics

authors

Tonni G,Panteghini M,Rossi A,Baldi M,Magnani C,Ferrari B,Lituania M

doi

10.1007/s00404-010-1643-6

subject

Has Abstract

pub_date

2011-04-01 00:00:00

pages

909-16

issue

4

eissn

0932-0067

issn

1432-0711

journal_volume

283

pub_type

杂志文章,评审

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