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

Larsen syndrome--lethal variety.

M L Kulkarni1, Zaheeruddin Mohammed, Preethi M Kulkarni

  • 1Department of Pediatrics, JJM Medical College, Davangere, Karnataka, India.

Indian Journal of Pediatrics
|January 3, 2006
PubMed
Summary

Larsen syndrome, a collagen formation disorder, presents with varied inheritance patterns. Early recognition is crucial as lethal forms are rare and often misdiagnosed.

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

Effect of Low-Temperature Plasma Treatment on Starch-Based Biochar and Its Reinforcement for Three-Dimensional Printed Polypropylene Biocomposites.

ACS omega·2022
Same author

Fibrochondrogenesis.

Indian journal of pediatrics·2017
Same author

Jatropha curcas-poisoning.

Indian journal of pediatrics·2017
Same author

CT-Based Anatomical Evaluation of Pre-Vertebral Structures With Respect to Vertebral Body Using a Clock-Face Analogy.

Spine·2015
Same author

Minimally Invasive Surgery in Patients With Adolescent Idiopathic Scoliosis: Is it Better than the Standard Approach? A 2-Year Follow-up Study.

Clinical spine surgery·2014
Same author

Pedicle screws adjacent to the great vessels or viscera: a study of 2132 pedicle screws in pediatric spine deformity.

Journal of spinal disorders & techniques·2014

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Larsen syndrome is a rare genetic disorder affecting collagen formation.
  • It exhibits diverse inheritance patterns, including autosomal dominant, autosomal recessive, and sporadic mutations.

Observation:

  • Generalized defects in collagen formation characterize Larsen syndrome.
  • Lethal variants of Larsen syndrome are exceptionally rare globally.

Findings:

  • The study highlights the genetic basis of Larsen syndrome, linked to collagen defects.
  • Documentation of rare lethal Larsen syndrome cases is emphasized.

Implications:

  • Accurate diagnosis of Larsen syndrome is critical for patient management.
  • Increased awareness can prevent misdiagnosis of this rare condition.