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Updated: Dec 5, 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
Interstitial Lung Disease in Rare Congenital Syndromes
1Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Abstract:
Diffuse or interstitial lung disease (DLD/ILD) comprises a diverse group of disorders that involve the pulmonary parenchyma. Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. They are rare conditions, and thus their frequency is not high. However, considering the progress and increasing availability of genetic testing, detection of these rare syndromes may increase. The aim of this work is, therefore, to present the symptomatology of selected congenital syndromes with ILD, taking into account the genetic background.
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