Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 14 , ISSUE 2 ( April-June, 2020 ) > List of Articles


Fetal Holoprosencephaly

Fatima AL-khawaja, Mary J Madut, Gamal Abdo, Helmi Noor, Badreldeen Ahmed

Keywords : Antenatal ultrasound, Fetal malformation, Holoprosencephaly

Citation Information : AL-khawaja F, Madut MJ, Abdo G, Noor H, Ahmed B. Fetal Holoprosencephaly. Donald School J Ultrasound Obstet Gynecol 2020; 14 (2):164-166.

DOI: 10.5005/jp-journals-10009-1629

License: CC BY-NC 4.0

Published Online: 30-07-2020

Copyright Statement:  Copyright © 2020; The Author(s).


Holoprosencephaly is a birth defect that leads to an abnormal brain development where the brain fails to divide into two hemispheres. Possible causes are environmental or genetic factors. Holoprosencephaly can include craniofacial abnormalities in most of the cases. Here we report a case of delayed diagnosis of holoprosencephaly with cyclopia, proboscis, and ethmocephaly.

  1. Solomon BD, Gropman A, Muenke M. Holoprosencephaly overview. GeneReviews®[Internet]. Seattle: University of Washington; 2013.
  2. Dubourg C, Bendavid C, Pasquier L, et al. Holoprosencephaly. Orphanet J Rare Dis 2007;2(1):8. DOI: 10.1186/1750-1172-2-8.
  3. Vaz SS, Chodirker B, Prasad C, et al. Risk factors for nonsyndromic holoprosencephaly: A Manitoba case–control study. Am J Med Genet A 2012;158(4):751–758. DOI: 10.1002/ajmg.a.35240.
  4. Hamza A, Higgins MJ. Holoprosencephaly. Autops Case Rep 2017;7(4):22–25. DOI: 10.4322/acr.2017.033.
  5. Raam MS, Solomon BD, Muenke M. Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr 2011;48(6):457. DOI: 10.1007/s13312-011-0078-x.
  6. Geng X, Oliver G. Pathogenesis of holoprosencephaly. J Clin Invest 2009;119(6):1403–1413. DOI: 10.1172/JCI38937.
  7. Pallangyo P, Lyimo F, Nicholaus P, et al. Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report. J Med Case Rep 2016;10(1):358. DOI: 10.1186/s13256-016-1141-y.
  8. Sepulveda W, Dezerega V, Be C. First-trimester sonographic diagnosis of holoprosencephaly: value of the “butterfly” sign. J Ultrasound Med 2004;23(6):761–765. DOI: 10.7863/jum.2004.23.6.761.
  9. Wong HS, Lam YH, Tang MH, et al. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. Ultrasound Obstet Gynecol 1999;13(5):356–359. DOI: 10.1046/j.1469-0705.1999.13050356.x.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.