The assessment of holoprosencephaly cases in the last 10 years

Hulusi Goktug Gurer 1, Ozlem Ozgur Gursoy 1, Ceren Yildiz Eren 1 *
More Detail
1 Obstetrics and Gynecology Clinic, Eskisehir Acibadem Hospital, Eskisehir, Turkey
* Corresponding Author
J CLIN MED KAZ, Volume 18, Issue 4, pp. 91-94. https://doi.org/10.23950/jcmk/11048
OPEN ACCESS 1343 Views 1366 Downloads
Download Full Text (PDF)

ABSTRACT

Holoprosencephaly is a disorder of cleavage failure or incomplete differentiation of the forebrain structures. Chromosomal anomalies and environmental teratogenic factors play a role in its development. We reported 22 cases of holoprosencephaly diagnosed between the years 2011-2020 in our clinic.
Keywords: Holoprosencephaly, ultrasonography, chromosomal abnormality

CITATION

Gurer HG, Gursoy OO, Eren CY. The assessment of holoprosencephaly cases in the last 10 years. J CLIN MED KAZ. 2021;18(4):91-4. https://doi.org/10.23950/jcmk/11048

REFERENCES

  • Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010; 154(1): 13-21. doi: 10.1002/ajmg.c.30233.
  • Blaas HG, AG Eriksson AG, KA Salvesen KA, CV Isaksen CV, B Christensen B, G Møllerløkken G et al. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002; 19(1): 24-38 . doi: 10.1046/j.0960-7692.2001.00154.x.
  • Raam MS, Solomon BD, Muenke M. Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr. 2011; 48(6): 457-466. doi: 10.1007/s13312-011-007.
  • Cohen Jr MM. An update on the holoprosencephalic disorders. The Journal of pediatrics. 1982 Nov 1;101(5):865-9.
  • Demyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963; 23: 1-36. doi: 10.1159/000104278.
  • Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 1993; 14(2): 431-440.
  • Ionescu CA, Calin D, Navolan D, Matei A, Dimitriu M, Herghelegiu C et at. Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review. Medicine. 2018; 97(29): e11521. doi: 10.1097/MD.0000000000011521.
  • Kruszka P, Martinez AF, Muenke M. Molecular testing in holoprosencephaly. Am J Med Genet C. 2018; 178(2): 187-193. https://doi.org/10.1002/ajmg.c.31617.
  • Kurtz AB, Wapner RJ, Rubin CS, Cole-Beuglet C, Ross RD, Goldberg BB. Ultrasound criteria for in utero diagnosis of microcephaly. J Clin Ultrasound. 1980; 8(1): 11-16. doi: 10.1002/jcu.1870080104.
  • Blaas HG, Eik-Nes HS, Vainio T, Isaksen CV. Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and threedimensional ultrasound. Ultrasound Obstet Gynecol. 2000; 15: 62-65. doi: 10.1046/j.1469-0705.2000.00005.x.
  • Levey EB, Stashinko E, Clegg NJ, Delgado MR. Management of children with holoprosencephaly. Am J Med Genet Part C Semin Med Genet. 2010; 154(1): 183–190. https://doi.org/10.1002/ajmg.c.30254
  • Herghelegiu D, Ionescu CA, Pacu I, Bohiltea R, Herghelegiu C, Vladareanu S. Antenatal diagnosis and prognostic factors of aneurysmal malformation of the vein of Galen: a case report and literature review," Medicine (Baltimore), vol.96, e7483-8, 2017. doi.org/10.1097/MD.0000000000007483
  • Croen LA, Shaw GA, Lammer EJ, "Holoprosencephaly: epidemiologic and clinical characteristics of a California population," Am J Med Genet, vol.64, pp.465-472, 1996. doi: 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O.
  • Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich AJ et al. Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain," Neurology, vol.59, pp.1058-1066, 2002. doi: 10.1212/wnl.59.7.1058.
  • Hahn JS, Plawner LL. "Evaluation and management of children with holoprosencephaly," Pediatr Neurol, vol.31, pp.79-88, 2004. doi: 10.1016/j.pediatrneurol.2004.03.006.
  • Timor-Trisch IE, Monteguado A, Santos R. "Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly," Ultrasound Obstet Gynecol, vol.32, pp.744-750, 2008. https://doi.org/10.1002/uog.6245
  • Barr M, Cohen MM, "Holoprosencephaly survival and performance, " Am J Med Genet, vol.89, pp.116-120, 1999.