Advanced search
Publication Cover
Journal of Obstetrics and Gynaecology Volume 31, 2011 - Issue 8
Submit an article Journal homepage
208
Views
4
CrossRef citations to date
0
Altmetric
Research Article

Prenatal diagnosis of craniosynostosis: Sonographic features of Muenke syndrome

A. ShawInstitute of Child Health, University College London, UK
,
O. B. PetersenAarhus University Hospital Skejby, Aarhus, Denmark
&
L. S. ChittyInstitute of Child Health, University College London, UK;University College Hospitals London NHS Foundation Trust, London, UKCorrespondence[email protected]
Pages 770-771 | Published online: 15 Nov 2011

References

  • Chen C-P, Chern S-R, Lin S-P . 2003. Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis. Prenatal Diagnosis 23:175–176.
  • Delahaye S, Bernard JP, Renier D, Ville Y. 2003. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound in Obstetrics and Gynecology 21:347–353.
  • Doherty ES, Lacbawan F, Hadley DW . 2007. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. American Journal of Medical Genetics A 143A:3204–3215.
  • Escobar LF, Hiett AK, Marnocha A. 2009. Significant phenotypic variability of Muenke syndrome in identical twins. American Journal of Medical Genetics A 149A:1273–1276.
  • Filkins K, Russo JF, Boehmer S . 1997. Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. Prenatal Diagnosis 17:1081–1084.
  • Golla A, Lichmer P, von Gernet S . 1997. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. Journal of Medical Genetics 34:683–684.
  • Gripp KW, Donald-McGinn DM, Gaudenz K . 1998. Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. Journal of Pediatrics 132:714–716.
  • Kaufmann K, Baldinger S, Pratt L. 1997. Ultrasound detection of Apert syndrome: a case report and literature review. American Journal of Perinatology 14:427–430.
  • Miller C, Losken HW, Towbin R . 2002. Ultrasound diagnosis of craniosynostosis. Cleft Palate-craniofacial Journal 39:73–80.
  • Moloney DM, Wall SA, Ashworth GJ . 1997. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349:1059–1062.
  • Muenke M, Gripp KW, Donald-McGinn DM . 1997. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. American Journal of Human Genetics 60:555–564.
  • Reardon W, Wilkes D, Rutland P . 1997. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. Journal of Medical Genetics 34:632–636.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.