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Down syndrome: clinical profile from India.

Maina P Kava1, Milind S Tullu, Mamta N Muranjan

  • 1Department of Pediatrics, Genetics Division, Seth Gordhandas Sunderdas Medical College and King Edward VII Memorial Hospital, Parel, Mumbai, Maharashtra, India.

Archives of Medical Research
|March 24, 2004
PubMed
Summary

This study analyzed 524 patients with Down syndrome (DS), detailing their demographic, clinical, and karyotype features. The most common features included specific craniofacial traits and hypotonia, with congenital heart disease affecting 18.3% of cases.

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Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Down syndrome (DS) is a genetic disorder with variable clinical manifestations.
  • Understanding demographic and clinical features is crucial for patient management.

Purpose of the Study:

  • To investigate the demographic characteristics, clinical presentations, and karyotype analyses of patients with Down syndrome (DS).

Main Methods:

  • Retrospective analysis of 524 DS patient records from a tertiary-care teaching hospital's Genetic Clinic.
  • Data collected included age, sex, maternal age, physical features, congenital heart disease, gastrointestinal abnormalities, and cytogenetic results.

Main Results:

  • Common craniofacial features: mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%). Hypotonia present in 76.3%.

Related Experiment Videos

  • Congenital heart disease (CHD) diagnosed in 18.3% (ventricular septal defect most common). Gastrointestinal anomalies in 7 cases.
  • Cytogenetic analysis revealed free trisomy (non-dysjunction) in 95% of cases with available results.

    • Conclusions:

    • Not all characteristic features are present in every DS case; key features include mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia.
    • Congenital heart disease affects 18.3%, with VSD being most frequent. Non-dysjunction is the primary cause of chromosomal anomaly in DS.