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

Cornelia de-Lange syndrome.

D Gupta1, S Goyal

  • 1Department of Pedodontics, M. M. College of Dental Sciences and Research Mullana, Ambala, India.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|April 29, 2005
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

Prevalence of Aspergillus sensitisation in pulmonary tuberculosis-related fibrocavitary disease.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·2014
Same author

Expression of short chain fatty acid receptors and pro-inflammatory cytokines in utero-placental tissues is altered in cows developing retention of fetal membranes.

Placenta·2014
Same author

Adaptive radiotherapy in lung cancer: dosimetric benefits and clinical outcome.

The British journal of radiology·2014
Same author

Intradescemetic air trap post deep anterior lamellar keratoplasty in a child with mucopolysaccharidosis.

Eye (London, England)·2014
Same author

Role of surgical staging and adjuvant treatment in uterine serous carcinoma.

European journal of gynaecological oncology·2014
Same author

Inter-character relationships and heterosis observed in opaque-2 maize crosses and in their normal analogues.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2014
Same journal

Comparative evaluation of different irrigation solutions used in dentistry: A scanning electron microscope and energy dispersive X-ray analysis study.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2026
Same journal

Comparative evaluation of effect of silver diamine fluoride with different anti-staining agents on shear bond strength of universal adhesive to dentin: An in vitro study.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2026
Same journal

Clinical performance of 3D printed resin endocrowns and full coverage crowns versus stainless steel crowns for primary molars: A randomized control trial.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2026
Same journal

Comparative evaluation of hybrid resin polymer, nanohybrid composite, and preformed stainless-steel crowns in primary second molars - A randomized control trial.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2026
Same journal

Comparative evaluation of saliva absorbers, rubber dam, and cotton rolls for isolation during restorative procedure in children - A randomized clinical trial.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2026
Same journal

Comparative effectiveness of biotic-based toothpastes in children with special health care needs: A randomized controlled trial.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2026
See all related articles

Cornelia De Lange syndrome is a rare genetic disorder affecting multiple congenital anomalies and intellectual disability. It presents with growth retardation, developmental delay, limb abnormalities, and distinctive facial features.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Cornelia De Lange syndrome (CdLS) is a rare genetic disorder characterized by multiple congenital anomalies and intellectual disability.
  • The incidence of CdLS is estimated between 1:30,000 and 1:50,000 live births, with no known racial predilection.
  • It is often considered to result from a new dominant mutation, indicating a genetic basis.

Observation:

  • Key clinical manifestations include prenatal and postnatal growth retardation.
  • Developmental delay, intellectual disability, hirsutism, and structural limb abnormalities are commonly observed.
  • Distinctive facial features and discrepancies in facial growth are characteristic diagnostic indicators.

Findings:

  • The syndrome encompasses a spectrum of severity, impacting multiple organ systems.

Related Experiment Videos

  • Common causes of mortality in affected individuals involve pneumonia and cardiac, respiratory, or gastrointestinal abnormalities.
  • While the exact etiology remains largely unknown, genetic factors are strongly implicated.

    • Implications:

    • Accurate diagnosis and understanding of CdLS etiology are crucial for genetic counseling and family planning.
    • Early identification of clinical features can facilitate timely intervention and management strategies.
    • Further research into the genetic underpinnings of CdLS may reveal potential therapeutic targets.