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Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
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Published on: March 18, 2010

Werner's Syndrome.

S P Nair1, M Vijayadharan, A Gupta

  • 1From the Department of Dermatology and Venerology, Medical College Hospital, Thiruvananthapuram-655 011, India, .

Indian Journal of Dermatology, Venereology and Leprology
|October 6, 2010
PubMed
Summary
This summary is machine-generated.

This case study highlights Werner

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Area of Science:

  • Gerontology
  • Genetics
  • Internal Medicine

Background:

  • Werner's syndrome is a rare autosomal recessive disorder.
  • It is characterized by premature aging and a predisposition to various age-related diseases.
  • Early diagnosis is crucial for management and genetic counseling.

Purpose of the Study:

  • To present a clinical case of Werner's syndrome.
  • To illustrate the diverse manifestations of the syndrome.
  • To emphasize the diagnostic challenges and key features.

Main Methods:

  • Clinical case presentation.
  • Review of patient's physical examination findings.
  • Analysis of laboratory and radiological investigations.

Main Results:

  • The patient exhibited characteristic features including short stature, premature aging signs, skin sclerosis, hypogonadism, and beak-like nose.
  • Investigations confirmed diabetes mellitus, generalized osteoporosis, vascular calcification, and kidney abnormalities.
  • These findings were consistent with a diagnosis of Werner's syndrome.

Conclusions:

  • Werner's syndrome presents with a complex array of symptoms affecting multiple organ systems.
  • Multidisciplinary evaluation is essential for accurate diagnosis.
  • Recognition of these features aids in timely intervention and patient management.