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

Down syndrome associated malformations

S Rajangam1, S Hegde, I M Thomas

  • 1Dept. of Anatomy, St. John's Medical College, Bangalore.

Indian Journal of Medical Sciences
|May 6, 1998
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

LysM domain-containing chitinases in pteridophytes: A promising resource for sustainable biopesticides.

Plant biology (Stuttgart, Germany)·2025
Same author

Evaluation of progressive muscle relaxation and autonomous sensory meridian response in alleviating dental anxiety in children aged 7-11 years: a randomized controlled trial.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2025
Same author

Dirofilariasis mouse models for heartworm preclinical research.

Frontiers in microbiology·2023
Same author

Gastric teratoma presenting as melena in the newborn: A case report.

Journal of neonatal-perinatal medicine·2022
Same author

The applicability of the Demirjian, Willems and Chaillet standards to age estimation of 5-15 year old Indian children.

The Journal of forensic odonto-stomatology·2019
Same author

The signaling axis atypical protein kinase C λ/ι-Satb2 mediates leukemic transformation of B-cell progenitors.

Nature communications·2019
Same journal

An unusual formation of sciatic nerve.

Indian journal of medical sciences·2014
Same journal

Chronic myeloid leukemia with hyperdiploidy: a case report with review of literature.

Indian journal of medical sciences·2014
Same journal

A 24 year-old male with yellow nail syndrome having bronchiactasis without pleural effusion as a pulmonary manifestation.

Indian journal of medical sciences·2014
Same journal

Yellow oleander poisoning in eastern province: an analysis of admission and outcome.

Indian journal of medical sciences·2014
Same journal

Prevalence and determining factors of anemia and malnutrition among Egyptian children.

Indian journal of medical sciences·2014
Same journal

Autonomic system modification in Zen practitioners.

Indian journal of medical sciences·2014
See all related articles

This study analyzed 417 Down Syndrome patients, finding congenital heart defects were the most common malformation. Early diagnosis and genetic counseling are crucial for managing associated health conditions in Down Syndrome.

Area of Science:

  • Medical Genetics
  • Clinical Medicine
  • Pediatrics

Background:

  • Down Syndrome (DS) is a genetic disorder associated with characteristic physical features and developmental delays.
  • A significant proportion of individuals with Down Syndrome experience congenital malformations, impacting various organ systems.
  • Understanding the prevalence and types of malformations is essential for comprehensive patient care.

Purpose of the Study:

  • To report the spectrum of malformations and clinical findings in a cohort of cytogenetically confirmed Down Syndrome patients.
  • To determine the frequency of specific congenital anomalies in this population.
  • To provide data that can inform prognosis and treatment strategies.

Main Methods:

  • Retrospective analysis of clinical data from 417 patients with cytogenetically confirmed Down Syndrome.

Related Experiment Videos

  • Documentation and categorization of observed malformations and clinical findings.
  • Statistical calculation of the prevalence of different types of malformations.

    • Main Results:

    • Congenital heart defects were the most frequent malformation, occurring in 17.98% of patients.
    • Osteoarticular malformations (5.52%), eye anomalies (5.27%), and gastroenterological malformations (3.84%) were also observed.
    • The study identified a significant burden of congenital anomalies in the Down Syndrome cohort.

    Conclusions:

    • Congenital heart defects are a major concern in Down Syndrome patients.
    • Comprehensive screening for various malformations is warranted in individuals with Down Syndrome.
    • Appropriate genetic counseling regarding prognosis and treatment is vital for patients and their families.