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Holoprosencephaly: a developmental field defect.

V P Johnson1

  • 1Department of OB/GYN, School of Medicine, University of South Dakota, Vermillion.

American Journal of Medical Genetics
|October 1, 1989
PubMed
Summary
This summary is machine-generated.

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Holoprosencephaly is a spectrum of brain and facial malformations. Mild forms in relatives highlight the importance of careful examination for genetic and environmental factors.

Area of Science:

  • Developmental biology
  • Clinical genetics
  • Teratology

Background:

  • Holoprosencephaly (HPE) encompasses a range of congenital craniofacial malformations.
  • These malformations include severe presentations like cyclopia and milder forms.

Observation:

  • Etiologic heterogeneity is a known characteristic of holoprosencephaly.
  • Factors implicated include chromosomal abnormalities, genetic mutations, and teratogenic exposures.

Findings:

  • Holoprosencephaly is understood as a developmental field defect.
  • This perspective emphasizes the need to identify milder phenotypic expressions.

Implications:

  • Mild forms such as single median incisor, hypotelorism, bifid uvula, or pituitary deficiency may occur in relatives.

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  • Close scrutiny of family members is crucial for comprehensive diagnosis and genetic counseling.