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

Syndromes with cephaloceles

M M Cohen, R J Lemire

    Teratology
    |April 1, 1982
    PubMed
    Summary

    Encephaloceles, or neural tube defects, can occur alone or with other birth defects. This review details known syndromes and associations involving encephaloceles, aiding in diagnosis and understanding.

    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

    Confirmation of an oroacral pattern of anomalies: a disruption?

    American journal of medical genetics·1992
    Same author

    Bannayan-Riley-Ruvalcaba syndrome.

    American journal of medical genetics·1992
    Same author

    Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.

    Journal of craniofacial genetics and developmental biology·1992
    Same author

    Laparoscopic cholecystectomy: the anaesthetist's point of view.

    Canadian journal of anaesthesia = Journal canadien d'anesthesie·1992
    Same author

    Discovery and expository methods in teaching visual consonant and word identification.

    Journal of speech and hearing research·1992
    Same author

    Beare-Stevenson cutis gyrata syndrome.

    American journal of medical genetics·1992

    Area of Science:

    • Developmental Biology
    • Medical Genetics
    • Pediatric Neurology

    Background:

    • Encephaloceles are neural tube defects that can present as isolated malformations or as part of complex syndromes and associations.
    • Syndromic presentations of encephaloceles have received limited attention, with notable exceptions like aberrant tissue band syndrome and Meckel syndrome.
    • Understanding the spectrum of conditions associated with encephalocele is crucial for comprehensive diagnosis and management.

    Purpose of the Study:

    • To systematically review and discuss known syndromes and associations characterized by encephalocele.
    • To differentiate between anomalies secondary to encephalocele formation and primary, noncontiguous embryonic malformations.
    • To provide a consolidated resource for clinicians and researchers regarding the diverse etiologies and presentations of encephalocele.

    Main Methods:

    • Literature review of syndromes and associations involving encephalocele.
    • Categorization of conditions based on known genesis.
    • Discussion of associated anomalies, distinguishing between secondary and primary malformations.

    Main Results:

    • Detailed discussion of specific syndromes including aberrant tissue band syndrome, Chemke syndrome, cryptophthalmos syndrome, dyssegmental dwarfism, frontonasal dysplasia, Knobloch syndrome, Meckel syndrome, pseudo-Meckel syndrome, von Voss syndrome, and warfarin syndrome.
    • Enumeration of common associated anomalies such as absent corpus callosum, orofacial clefting, craniostenosis, Dandy-Walker defect, Arnold-Chiari defect, ectrodactyly, hemifacial microsomia, hypothalamic-pituitary dysfunction, Klippel-Feil anomaly, iniencephaly, and myelomeningocele.
    • Exploration of other conditions with encephalocele, considering both true associations and potentially spurious occurrences.

    Conclusions:

    • Encephalocele is a significant congenital anomaly that frequently occurs within the context of broader genetic syndromes and developmental associations.
    • A comprehensive understanding of these syndromes and associated anomalies is essential for accurate diagnosis, genetic counseling, and patient management.
    • Further research is warranted to elucidate the etiology of less understood encephalocele associations and to differentiate true from spurious links.

    Related Experiment Videos