| Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality. | |
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MedLine Citation:
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PMID: 8368253 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. This study demonstrates that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathological finding in spontaneous congenital chylothorax. These observations indicate a common pathogenesis for both disorders. The basic defect is not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence. The cause of CPL is heterogeneous. Apparently, most cases are sporadic occurrences. We report the second instance of CPL in sibs. This indicates that some cases are genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome such as Noonan, Ullrich-Turner, and Down syndrome. |
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Authors:
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P Moerman; K Vandenberghe; H Devlieger; C Van Hole; J P Fryns; J M Lauweryns |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 47 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Aug |
Date Detail:
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Created Date: 1993-10-07 Completed Date: 1993-10-07 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 54-8 Citation Subset: IM |
Affiliation:
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Department of Pathology I, Katholieke Universiteit Leuven, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Chylothorax / congenital*, genetics Female Genetic Variation Gestational Age Humans Hydrops Fetalis Infant, Newborn Lung / abnormalities* Lymphangiectasis / congenital*, genetics Lymphatic System / abnormalities* Male Pedigree Sex Ratio |
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