Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Cerebral midline developmental anomalies: spectrum and associated features.

A L Delezoide1, F Narcy, J C Larroche

  • 1Laboratoire d'Histo-Cyto-Embryologie, Hôpital Necker - Enfants Malades, Paris.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1990
PubMed
Summary

Cerebral midline anomalies, including holoprosencephaly, are complex. Arhinencephaly and agenesis of the corpus callosum are often distinct from holoprosencephaly, despite shared facial phenotypes.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Fetal phenotypes in otopalatodigital spectrum disorders.

Clinical genetics·2015
Same author

Lung pathology in infants with rds.

Pediatric annals·2014
Same author

Foetal serum but not urinary β2-microglobulin correlates with histological injury to the kidney.

Clinical biochemistry·2013
Same author

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

Kidney international·2009
Same author

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.

Prenatal diagnosis·2009
Same author

Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy.

Prenatal diagnosis·2008

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Medical Genetics

Background:

  • Cerebral midline anomalies involve defects in the anatomical relationship between brain hemispheres.
  • These anomalies encompass holoprosencephalies, septal agenesis, and commissural agenesis.
  • Agenesis of the olfactory tract (arhinencephaly) is often grouped with holoprosencephalies, with associated facial phenotypes.

Purpose of the Study:

  • To review literature and personal experience on cerebral midline anomalies.
  • To clarify the relationship between holoprosencephaly, arhinencephaly, and agenesis of the corpus callosum.
  • To differentiate the origins of major and minor facial malformations.

Main Methods:

  • Literature review.
  • Analysis of personal experience from two Fetopathology units in Paris.

Related Experiment Videos

  • Comparative analysis of different cerebral malformations and their associations.

    • Main Results:

    • Confirmed frequent associations between various cerebral malformations.
    • Arhinencephaly and agenesis of the corpus callosum are often heterogeneous and independent of holoprosencephaly.
    • Major facial anomalies like cyclopia are indicative of holoprosencephaly, while minor ones have diverse origins.

    Conclusions:

    • Arhinencephaly and agenesis of the corpus callosum should be viewed as distinct entities from holoprosencephaly.
    • Facial malformations have varied etiologies, with only severe anomalies being pathognomonic for holoprosencephaly.