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Updated: Jul 26, 2025

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
[Pneumothorax as an early indication for a genetic disorder]
Lore van Riel1,2, Irma van de Beek3, Rob M F Wolthuis1
1Amsterdam UMC, afd. Humane Genetica, Amsterdam.
Spontaneous pneumothorax can indicate underlying hereditary disorders. Early diagnosis through clinical evaluation and DNA testing benefits patients and families, enabling crucial screenings like for kidney cancer.
Area of Science:
- Medical Genetics
- Pulmonology
Background:
- Hereditary disorders can manifest as spontaneous pneumothorax, often with variable and subtle symptoms.
- Advances in DNA testing increase physician exposure to these genetic conditions.
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