Prenatal ultrasound diagnosis of fetal craniosynostosis

Craniosynostosis is defined as the premature closure of the calvarial sutures. The prevalence of this heterogeneous condition is 1 in 2000 and approximately 100 different forms have been described with an established genetic transmission in half of them. Prenatal diagnosis of craniosynostosis relies mainly on identification of associated anomalies and molecular analysis of fetal DNA, which is only feasible in some syndromic forms and in well‐documented families. The objective of this study was to investigate the value of prenatal ultrasound examination of cranial sutures in fetuses at risk for craniosynostosis.

[1]  O. Rabinovitch,et al.  Exophthalmus–prenatal ultrasonic features for diagnosis of Crouzon syndrome , 1989, Prenatal Diagnosis.

[2]  W. Mcalister,et al.  Craniosynostosis 1998: concepts and controversies , 1998, Pediatric Radiology.

[3]  E. Sauerbrei,et al.  High-resolution sonography of the abnormal cranial suture , 1998, Pediatric Radiology.

[4]  D. Krakow,et al.  Use of three‐dimensional ultrasonography in differentiating craniosynostosis from severe fetal molding. , 2001, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[5]  K. Devriendt,et al.  Diaphragmatic hernia as the first echographic sign in Apert syndrome , 2000, Prenatal diagnosis.

[6]  P. Sonigo,et al.  Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology , 2000, Fetal Diagnosis and Therapy.

[7]  L. Hill,et al.  Sonographic findings with pfeiffer syndrome , 1994, Prenatal diagnosis.

[8]  F. Tsai,et al.  Prenatal diagnosis of Apert syndrome , 1998 .

[9]  E. Jabs,et al.  Second‐trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[10]  Eric Arnaud,et al.  Management of craniosynostoses , 2000, Child's Nervous System.

[11]  E. Jabs,et al.  Prenatal ultrasonographic and molecular diagnosis of apert syndrome , 1997, Prenatal diagnosis.

[12]  R. Pooh,et al.  Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[13]  Y. Gollin,et al.  Sonographic appearance of craniofacial dysostosis (Crouzon syndrome) in the second trimester , 1993, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[14]  S. Baldinger,et al.  Ultrasound detection of Apert syndrome: a case report and literature review. , 1997, American journal of perinatology.

[15]  R. Spiro,et al.  Using three‐dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome , 2000, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[16]  Anatomic and sonographic features of the fetal skull. , 1994, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[17]  H. Losken,et al.  Ultrasonic Prenatal Diagnosis of Coronal Suture Synostosis , 1997, The Journal of craniofacial surgery.

[18]  C. Lépinard,et al.  Syndrome d'Apert : diagnostic échographique, prise en charge obstétricale , 1995 .

[19]  M. Miodovnik,et al.  Antley‐Bixler syndrome , 1992, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[20]  W. Stuberg Smithʼs Recognizable Patterns of Human Malformation, 5th ed , 2001 .

[21]  G. R. Cohen,et al.  Prenatal sonographic findings of Apert syndrome , 1994, Journal of clinical ultrasound : JCU.

[22]  P. Bénit,et al.  Mutations of the TWIST gene in the Saethre-Chotzene syndrome , 1997, Nature Genetics.

[23]  R. Keating Craniosynostosis: diagnosis and management in the new millennium. , 1997, Pediatric annals.

[24]  V. Ganesh,et al.  CROUZON SYNDROME: PRENATAL ULTRASOUND DIAGNOSIS BY BINOCULAR DIAMETERS , 1991, Obstetrics and Gynecology.

[25]  J. Meilstrup,et al.  Prenatal sonographic appearance of asymmetric craniosynostosis: a case report. , 1995, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[26]  C. Vermeij-Keers,et al.  The ultrasonic detection of an isolated craniosynostosis , 1995, Prenatal diagnosis.

[27]  I. V. Scott,et al.  Prenatal ultrasound diagnosis of Apert's syndrome , 1991, Prenatal diagnosis.

[28]  T. Ko,et al.  Prenatal diagnosis of Apert syndrome with widely separated cranial sutures , 2000, Prenatal Diagnosis.

[29]  N. Winer,et al.  Contribution of Tridimensional Sonography and Magnetic Resonance Imaging to Prenatal Diagnosis of Apert Syndrome at Mid-Trimester , 1999, Fetal Diagnosis and Therapy.

[30]  M. Bourgeois,et al.  Craniosynostosis and fetal exposure to sodium valproate. , 2001, Journal of neurosurgery.

[31]  S. Kreiborg,et al.  FIRST‐TRIMESTER PRENATAL DIAGNOSIS OF CROUZON SYNDROME , 1996, Prenatal diagnosis.

[32]  K. Jones,et al.  Smith's Recognizable Patterns of Human Malformation , 1996 .

[33]  P. Parent,et al.  Apert syndrome, an antenatal ultrasound detected case. , 1994, Genetic counseling.

[34]  A. Shanske,et al.  Prenatal diagnosis of type 2 Pfeiffer syndrome , 1996, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[35]  S. Sekiya,et al.  Prenatal molecular diagnosis for Apert syndrome , 1996, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

[36]  H. Bruel,et al.  La craniosténose de la métopique, effet probable de l'exposition intra-utérine à un traitement maternel par le valproate , 2001 .