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Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Pleiotropy

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Mouse Model of Metabolic Dysfunction-Associated Steatotic Liver Disease with Fibrosis
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Wolf-Hirschhorn syndrome.

Naureen Akhtar1

  • 1Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore. naureenakhtar@hotmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|May 14, 2008
PubMed
Summary

Wolf-Hirschhorn syndrome, a rare chromosomal disorder, results from a deletion on chromosome 4. This condition causes distinctive facial features, developmental delays, and other serious health issues.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Chromosomal abnormalities are a significant factor in congenital anomalies and intellectual disability.
  • Understanding rare genetic disorders is crucial for diagnosis and management.

Observation:

  • A case of Wolf-Hirschhorn syndrome, a rare chromosomal disorder, is presented.
  • The syndrome is caused by a deletion on the short arm of chromosome 4 (4p deletion).

Findings:

  • The patient exhibited characteristic facial features associated with Wolf-Hirschhorn syndrome.
  • Key clinical manifestations included seizures, microcephaly, midline closure defects, growth, and mental retardation.

Implications:

  • This case highlights the importance of genetic analysis in diagnosing developmental disorders.

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  • Early identification of Wolf-Hirschhorn syndrome can guide supportive care and genetic counseling.