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Title: Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality
Authors: Moerman, Philippe ×
Vandenberghe, K
Devlieger, Hugo
Vanhole, Christine
Fryns, Jean-Pierre
Lauweryns, J M #
Issue Date: Aug-1993
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:47 issue:1 pages:54-8
Abstract: 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.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Section Newborn (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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