Advanced search
Publication Cover
Fetal and Pediatric Pathology Volume 38, 2019 - Issue 6
Submit an article Journal homepage
255
Views
6
CrossRef citations to date
0
Altmetric
Case Reports

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report

Cihan InanDivision of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey; Correspondence[email protected]
,
N. Cenk SayinDivision of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey;
,
Hakan GurkanDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey;
,
Engin AtliDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey;
,
Selen Gursoy ErzincanDivision of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey;
,
Isil UzunDivision of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey;
,
Havva SutcuDivision of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey;
,
Sumeyra DoganDepartment of Radiology, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Emine Ikbal AtliDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey;
&
Fusun VarolDivision of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey;
show all
Pages 496-502 | Received 16 Jan 2019, Accepted 26 Feb 2019, Published online: 26 May 2019

References

  • Howe DT, Rankin J, Draper ES. Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 2012;39(1):75–82. doi: 10.1002/uog.9069.
  • Kutuk MS, Gorkem SB, Bayram A, Doganay S, Canpolat M, Basbug M. Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 2015;30(10):1388–94. doi: 10.1177/0883073814556312.
  • Bansal N, Maini B, Bhardwaj AK, Sharma R. Schizencephaly of open and closed lip type in the same patient: an extremely rare occurrence. J Pediatr Neurosci. 2012;7(2):109–10. doi: 10.4103/1817-1745.102570.
  • Halabuda A, Klasa L, Kwiatkowski S, Wyrobek L, Milczarek O, Gergont A. Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 2015;31(4):551–6. doi: 10.1007/s00381-015-2638-1.
  • Raybaud C, Girard N, Levrier O, Peretti-Viton P, Manera L, Farnarier P. Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum. Childs Nerv Syst. 2001;17(4-5):217–22. doi: 10.1007/s003810000389.
  • Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J, Quiñones D. Schizencephaly: a study of 16 patients. Neurologia. 2012;27(8):491–9. doi: 10.1016/j.nrl.2011.06.005.
  • Curry CJ, Lammer EJ, Nelson V, Shaw GM. Schizencephaly: heterogeneous etiologies in a population of 4 million California births. AmJ Med Genet A. 2005;137(2):181–89. doi: 10.1002/ajmg.a.30862.
  • Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, Flurin V, Pedespan J. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 2000;22(8):475–83. doi: 10.1016/S0387-7604(00)00173-X.
  • Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, et al. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet. 2010;127(5):555–61. doi: 10.1007/s00439-010-0797-4.
  • Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol. 2005;20(4):313–8. doi: 10.1177/08830738050200040801.
  • Ugboma EW, Agi CE. Schizencephaly: a case report and review of literature. Niger Postgrad Med J 2016;23(1):38–40. doi: 10.4103/1117-1936.180181.
  • Archie JG, Collins JS, Lebel RR. Quantitative standards for fetal and neonatal autopsy. Am J Clin Pathol. 2006;126(2):256–65. doi: 10.1309/FK9D-5WBA-1UEP-T5BB.
  • Park MY, Kim HS, Lee M, Park B, Lee HY, Cho EB, Seong JY, Bae YS. FAM19A5, a brain-specific chemokine, inhibits RANKL-induced osteoclast formation through formyl peptide receptor 2. Sci Rep. 2017;7(1):15575. doi: 10.1038/s41598-017-15586-0.
  • Tom Tang Y, Emtage P, Funk WD, Hu T, Arterburn M, Park EE, Rupp F. TAFA: a novel secreted family with conserved cysteine residues and restricted expression in the brain. Genomics. 2004;83(4):727–34. doi: 10.1016/j.ygeno.2003.10.006.
  • Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, et al. A framework to identify contributing genes in patients with Phelan-McDermid syndrome. npj Genomic Med. 2017;2:32. doi: 10.1038/s41525-017-0035-2.
  • Phelan K, McDermid HE. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012;2(3-5):186–201. doi: 10.1159/000334260.
  • Stopa J, Kucharska-Miąsik I, Dziurzyńska-Białek E, Kostkiewicz A, Solińska A, Zając-Mnich M, Guz W, Samojedny A. Diagnostic imaging and problems of schizencephaly. Pol J Radiol. 2014;79:444–9. doi: 10.12659/PJR.890540.
  • Griffiths PD. Schizencephaly revisited. Neuroradiology. 2018;60(9):945–60. doi: 10.1007/s00234-018-2056-7.
  • Nabavizadeh SA, Zarnow D, Bilaniuk LT, Schwartz ES, Zimmerman RA, Vossough A. Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol. 2014;35(7):1418–24. doi: 10.3174/ajnr.A3872.
  • Fadakar K, Dadkhahfar S, Esmaeili A, Keyhanidoust Z. A case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. Iran J Child Neurol. 2012;6(4):47–50. PMID:24665280.
  • Harada T, Uegaki T, Arata K, Tsunetou T, Taniguchi F, Harada T. Schizencephaly and porencephaly due to fetal intracranial hemorrhage: a report of two cases. Yonago Acta Med. 2017;60(4):241–5. PMID: 29434494. doi: 10.24563/yam.2017.12.005.

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.