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

Dubowitz' syndrome with special characteristics.

G Gomirato1, F Bona, R Basano

  • 1Pediatric Unit, Ospedale Civile, Giaveno, Torino, Italy.

Panminerva Medica
|July 1, 1992
PubMed
Summary

Dubowitz syndrome is a rare genetic disorder characterized by growth retardation, microcephaly, and distinctive facial and limb abnormalities. This report details a unique case, highlighting metacarpal hypoplasia and adducted thumbs, adding to the syndrome

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

Hidden Decomposers: the Role of Bacteria and Fungi in Recently Intermittent Alpine Streams Heterotrophic Pathways.

Microbial ecology·2023
Same author

COVID-19 effect on TB presentation and outcome.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·2022
Same author

Local versus landscape spatial influence on biodiversity: a case study across five European industrialized areas.

Environmental monitoring and assessment·2017
Same author

Environmental drivers of phototrophic biofilms in an Alpine show cave (SW-Italian Alps).

The Science of the total environment·2015
Same author

[Treatment of persistent postmastectomy pain with 5% Lidocaine medicated plaster].

Minerva chirurgica·2015
Same author

Management of ischemic diabetic foot.

The Journal of cardiovascular surgery·2013

Area of Science:

  • Genetics and Developmental Biology
  • Clinical Medicine
  • Pediatrics

Background:

  • Dubowitz syndrome is a rare, complex genetic disorder.
  • Characterized by a spectrum of developmental anomalies including microcephaly, craniofacial dysmorphia, and limb abnormalities.
  • Its high degree of phenotypic variability necessitates detailed case reporting.

Observation:

  • Presents a case of Dubowitz syndrome with typical features such as growth retardation and microcephaly.
  • Highlights unusual findings of marked bilateral metacarpal hypoplasia and permanently adducted thumbs.
  • These specific anomalies contribute to the understanding of the syndrome's phenotypic spectrum.

Findings:

  • The reported case exhibits numerous anomalies consistent with Dubowitz syndrome.

Related Experiment Videos

  • The presence of bilateral metacarpal hypoplasia and adducted thumbs is a significant observation.
  • This case expands the known clinical manifestations of Dubowitz syndrome.

    • Implications:

    • Adds valuable data to the understanding of the highly polymorphous Dubowitz syndrome.
    • May aid in earlier diagnosis and improved genetic counseling for affected families.
    • Further research into the genetic underpinnings of these specific anomalies is warranted.