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Journal of Obstetrics and Gynaecology Volume 36, 2016 - Issue 6
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Case Report

A rare case of rhombencephalosynapsis and prenatal diagnosis

Resul ArisoyDepartment of Perinatology, Correspondence[email protected]
,
Emre ErdogduDepartment of Perinatology,
,
Oya PekinDepartment of Perinatology,
,
Semih TugrulDepartment of Perinatology,
,
Hatip AydinDepartment of Genetics, and
&
Cuma YorganciDepartment of Patology, Zeynep Kamil Maternity and Children’s Training and Research Hospital, Istanbul, Turkey
Pages 839-841 | Published online: 25 Mar 2016

References

  • Demurger F, Pasquier L, Dubourg C, Dupé V, Gicquel I, Evain C, et al. 2013. Array-CGH analysis suggests genetic heterogeneity in rhombencephalosynapsis. Molecular Syndromology 4:267–272.
  • di Vera E, Liberati M, Celentano C, Calabrese G, Guanciali-Franchi PE, Morizio E, et al. 2008. Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. Journal of Assisted Reproduction and Genetics 25:577–580.
  • Guleria S, Kelly TG, Maheshwari M, Segall HD. 2012. An atypical case of chiari II malformation mimicking partial rhombencephalosynapsis. The Neuroradiology Journal 25:528–532.
  • Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, et al. 2012. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 135:1370–1386.
  • Koprivsek KM, Novakov-Mikic AS, Lucic MA, Kozic DB, Till VE, Belopavlovic Z. 2011. Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. Acta Neurologica Belgica 111:157–159.
  • McAuliffe F, Chitayat D, Halliday W, Keating S, Shah V, Fink M, et al. 2008. Rhombencephalosynapsis: prenatal imaging and autopsy findings. Ultrasound in Obstetrics & Gynecology 3:542–548.
  • Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, et al. 2009. Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathologica 117:185–200.
  • Sener RN. 2007. Rhombencephalosynapsis associated with Dandy-Walker malformation. Journal of Neuroimaging 17:355–357.
  • Utsunomiya H, Takano K, Ogasawara T, Hashimoto T, Fukushima T, Okazaki M. 1998. Rhombencephalosynapsis: cerebellar embryogenesis. American Journal of Neuroradiology 19:547–549.
  • Whitehead MT, Choudhri AF, Grimm J, Nelson MD. 2014. Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatric Radiology 44:849–856.

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