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

Variable presentation of Rothmund-Thomson syndrome.

L A Pujol1, R P Erickson, R A Heidenreich

  • 1Department of Pediatrics, and the Steele Memorial Children's Research Center, University of Arizona, Tucson, Arizona, USA.

American Journal of Medical Genetics
|December 5, 2000
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

Manual Lymph Drainage for Alzheimer's Dementia: A Clinical Trial Whose Time Has Come?

Lymphology·2025
Same author

Format Correction: The Re-Discovery of Dural (Meningeal) Lymphatics: Amnesia or Ambition?

Lymphology·2025
Same author

Updated Human Chromosome Map of Lymphedema-lymphangiogenesis Genes: Template for Current and Future Discovery.

Lymphology·2025
Same author

Brain Lymphatics: Rediscovery and New Insights into Lymphatic Involvement in Diseases of Human Brains.

Lymphology·2024
Same author

The Re-Discovery of Dural (Meningeal) Lymphatics: Amnesia or Ambition?

Lymphology·2024
Same author

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

medRxiv : the preprint server for health sciences·2024
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002
Same journal

Three cases of tetrasomy 9p.

American journal of medical genetics·2002
See all related articles

Rothmund-Thomson syndrome (RTS) can present with varied symptoms, including growth deficiency or osteogenic sarcoma. Genetic analysis of helicase genes aids in understanding this rare disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Rothmund-Thomson syndrome (RTS) is a rare genetic disorder.
  • Recent findings link a subset of RTS patients to mutations in helicase genes.
  • This necessitates a reevaluation of RTS phenotypes.

Observation:

  • Two patients with variable RTS presentations were studied.
  • Patient 1 exhibited growth deficiency and absent thumbs.
  • Patient 2 presented with osteogenic sarcoma and poikiloderma.

Findings:

  • The growth-deficient patient had growth hormone deficiency.
  • The patient with osteogenic sarcoma showed no malformations or growth deficiency, only poikiloderma.
  • RTS diagnosis should be considered in osteogenic sarcoma cases, especially with skin changes.

Related Experiment Videos

Implications:

  • Understanding the genetic basis of RTS is crucial for accurate diagnosis.
  • Recognizing diverse clinical manifestations aids in early identification.
  • This research highlights the importance of considering RTS in patients with osteogenic sarcoma and poikiloderma.