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

Iniencephaly.

Lewis B Holmes1,2,3, M Hassan Toufaily1,2, Marie-Noel Westgate1,2

  • 1Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Birth Defects Research
|January 30, 2018
PubMed
Summary
This summary is machine-generated.

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

Use of Antiseizure Medications Early in Pregnancy and the Risk of Major Malformations in the Newborn.

Neurology·2025
Same author

Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972-2012).

American journal of medical genetics. Part A·2025
Same author

Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine.

American journal of medical genetics. Part A·2024
Same author

Personal journeys to and in human genetics and dysmorphology.

American journal of medical genetics. Part A·2024
Same author

Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in IQ.

American journal of medical genetics. Part A·2023
Same author

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

American journal of medical genetics. Part A·2023

Iniencephaly, a rare neural tube defect, is linked to anencephaly and myelomeningocele. While often lethal, this craniovertebral abnormality can be survivable, with one case reaching adulthood.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Public Health Surveillance

Background:

  • Iniencephaly is a severe craniovertebral junction malformation characterized by dramatic head retroflexion.
  • Anatomical features include cervical lordosis, vertebral fusion anomalies, widened foramen magnum, and a small posterior fossa.
  • This rare neural tube defect is associated with higher frequencies in regions with prevalent anencephaly and myelomeningocele.

Purpose of the Study:

  • To determine the prevalence of iniencephaly using a malformations surveillance program.
  • To identify associated malformations and familial occurrence of neural tube defects in affected infants.
  • To assess the survivability and long-term outcomes of iniencephaly.

Main Methods:

  • Utilized a malformations surveillance program over 41 years, analyzing 289,365 births.
Keywords:
anencephalycervical lordosisiniencephalylethalmyelomeningocele

Related Experiment Videos

  • Identified and documented cases of iniencephaly and associated anomalies.
  • Investigated family histories for other neural tube defects.

    • Main Results:

    • Eight cases of iniencephaly were identified over 41 years.
    • Five of the eight infants had associated encephalocele or thoracic myelomeningocele.
    • Two affected infants had relatives with anencephaly, suggesting a genetic link.

    Conclusions:

    • Iniencephaly shows a relationship with common neural tube defects like anencephaly and myelomeningocele.
    • This complex neural tube defect is not invariably lethal, with potential for survival.
    • Malformations surveillance is effective in identifying and characterizing rare birth defects.