Congenital lobar emphysema
Other Names for this Disease
- Emphysema, congenital lobar
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cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue,
Last updated: 10/10/2011
- Congenital lobar emphysema. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/922/viewAbstract. Accessed 10/10/2011.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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