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[The Wolf-Hirschhorn Syndrome].

U Friebe-Hoffmann1, F Reister1, H Gaspar2

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Summary
This summary is machine-generated.

Wolf-Hirschhorn syndrome (WHS), a developmental disorder from chromosome 4p deletion, causes craniofacial issues and developmental delays. Prenatal diagnosis is possible, but WHS can be fatal in infancy.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Wolf-Hirschhorn syndrome (WHS) is a genetic disorder.
  • It is caused by a terminal deletion on the short arm of chromosome 4 (4p-).
  • WHS presents with characteristic craniofacial dysmorphism, growth retardation, intellectual disability, and seizures.

Observation:

  • The severity of WHS correlates with the deletion size.
  • Affected individuals may exhibit midline defects and abnormalities of the skeletal, urogenital, and central nervous systems.
  • While WHS can be fatal in infancy (approx. 1/3 of cases), survival beyond 30 years is documented.

Findings:

  • High-quality ultrasonography enables prenatal diagnosis of WHS.
  • Clinical presentation varies widely based on deletion extent.
  • This case report and literature review offer insights into WHS management.

Implications:

  • Early diagnosis through prenatal screening can inform management strategies.
  • Understanding genotype-phenotype correlations aids in predicting WHS outcomes.
  • Further research into WHS pathogenesis may reveal novel therapeutic targets.