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Non-genetic risk factors for holoprosencephaly.

Publication ,  Journal Article
Johnson, CY; Rasmussen, SA
Published in: Am J Med Genet C Semin Med Genet
February 15, 2010

Holoprosencephaly (HPE) is a congenital defect of the brain characterized by incomplete cleavage of the embryonic forebrain into left and right hemispheres. Although a substantial proportion of cases of HPE can be attributed to genetic abnormalities, the etiology in many cases remains unknown, with non-genetic risk factors believed to be important contributors. Due to the low birth prevalence of this defect, it has proven difficult to conduct studies of sufficient size to identify risk factors with certainty. This article provides a summary of non-genetic risk factors for HPE that have been investigated in case reports and case series, animal studies, and epidemiologic studies, including maternal illnesses, therapeutic and non-therapeutic exposures, nutritional factors, and sociodemographic factors. The article also highlights challenges in study design and further areas for research to better understand the etiology of HPE.

Duke Scholars

Published In

Am J Med Genet C Semin Med Genet

DOI

EISSN

1552-4876

Publication Date

February 15, 2010

Volume

154C

Issue

1

Start / End Page

73 / 85

Location

United States

Related Subject Headings

  • Risk Factors
  • Prevalence
  • Prenatal Exposure Delayed Effects
  • Pregnancy in Diabetics
  • Pregnancy Complications
  • Pregnancy
  • Mothers
  • Maternal Nutritional Physiological Phenomena
  • Hypertension
  • Humans
 

Citation

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Johnson, C. Y., & Rasmussen, S. A. (2010). Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet, 154C(1), 73–85. https://doi.org/10.1002/ajmg.c.30242
Johnson, Candice Y., and Sonja A. Rasmussen. “Non-genetic risk factors for holoprosencephaly.Am J Med Genet C Semin Med Genet 154C, no. 1 (February 15, 2010): 73–85. https://doi.org/10.1002/ajmg.c.30242.
Johnson CY, Rasmussen SA. Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):73–85.
Johnson, Candice Y., and Sonja A. Rasmussen. “Non-genetic risk factors for holoprosencephaly.Am J Med Genet C Semin Med Genet, vol. 154C, no. 1, Feb. 2010, pp. 73–85. Pubmed, doi:10.1002/ajmg.c.30242.
Johnson CY, Rasmussen SA. Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):73–85.
Journal cover image

Published In

Am J Med Genet C Semin Med Genet

DOI

EISSN

1552-4876

Publication Date

February 15, 2010

Volume

154C

Issue

1

Start / End Page

73 / 85

Location

United States

Related Subject Headings

  • Risk Factors
  • Prevalence
  • Prenatal Exposure Delayed Effects
  • Pregnancy in Diabetics
  • Pregnancy Complications
  • Pregnancy
  • Mothers
  • Maternal Nutritional Physiological Phenomena
  • Hypertension
  • Humans