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

[The De Barsy syndrome].

J Hoekx1, J Smeitink, H Brunner

  • 1Afd. Kindergeneeskunde, Academisch Ziekenhuis Nijmegen.

Tijdschrift Voor Kindergeneeskunde
|April 1, 1989
PubMed
Summary
This summary is machine-generated.

De Barsy syndrome is a rare genetic disorder characterized by premature aging, skin laxity, and developmental delays. This case report details a male infant

Related Experiment Videos

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

Spectral composition of NREM sleep in healthy subjects with moderately increased daytime sleepiness.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2003
Same author

Identification of cell surface determinants in Candida albicans reveals Tsa1p, a protein differentially localized in the cell.

FEBS letters·2003
Same author

Child-Pugh versus MELD score in predicting survival in patients undergoing transjugular intrahepatic portosystemic shunt.

Gut·2003
Same author

A screen in Saccharomyces cerevisiae identified CaMCM1, an essential gene in Candida albicans crucial for morphogenesis.

Molecular microbiology·2003
Same author

EFG1 is a major regulator of cell wall dynamics in Candida albicans as revealed by DNA microarrays.

Molecular microbiology·2002
Same author

Alps, genes, and chromosomes: their role in the formation of species in the Sorex araneus group (Mammalia, Insectivora), as inferred from two hybrid zones.

Cytogenetic and genome research·2002
Same journal

Tijdschrift voor kindergeneeskunde·2020
Same journal

Tijdschrift voor kindergeneeskunde·2020
Same journal

Tijdschrift voor kindergeneeskunde·2020
Same journal

[The prematurely born child; should it be as early as possible?].

Tijdschrift voor kindergeneeskunde·1993
Same journal

[How do we continue?].

Tijdschrift voor kindergeneeskunde·1993
Same journal

[Child nutrition: what can still go wrong in the year 1992?].

Tijdschrift voor kindergeneeskunde·1993
See all related articles

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • De Barsy syndrome is a rare genetic disorder.
  • It is characterized by a progeroid appearance, cutis laxa, and developmental issues.

Observation:

  • This report details a male infant with De Barsy syndrome.
  • Clinical symptoms were compared with previously reported cases.

Findings:

  • The aetiology of De Barsy syndrome remains unclear.
  • Autosomal recessive inheritance is suspected.

Implications:

  • Further research is needed to understand the aetiology and inheritance patterns.
  • Improved diagnosis and management strategies for De Barsy syndrome are essential.