{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T23:40:41Z","timestamp":1788478841499,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4324,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 defects is not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence.<\/jats:p><jats:p>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\u2010Turner, and Down syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470112","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:05:55Z","timestamp":1118509555000},"page":"54-58","source":"Crossref","is-referenced-by-count":86,"title":["Congenital pulmonary lymphangiectasis with chylothorax: A heterogeneous lymphatic vessel abnormality"],"prefix":"10.1002","volume":"47","author":[{"given":"Philippe","family":"Moerman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamiel","family":"Vandenberghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Devlieger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Van Hole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph M.","family":"Lauweryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/115.1.149"},{"key":"e_1_2_1_3_1","first-page":"654","article-title":"Congenital pulmonary lymphangiectasis","volume":"114","author":"Brown MD","year":"1967","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80420-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870060114"},{"key":"e_1_2_1_6_1","first-page":"537","article-title":"Anasarque non immunologique et chylothorax cong\u00e9nital","volume":"42","author":"Dubos JP","year":"1985","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.116.3.548"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288302200112"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.3.278"},{"key":"e_1_2_1_10_1","first-page":"429","volume-title":"Textbook of Fetal and Perinatal Pathology","author":"Keeling JW","year":"1991"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050113"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.12.1.62"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1542\/peds.19.1.21","article-title":"Congenital defects of the lymphatics in infancy","volume":"19","author":"McKendry JBJ","year":"1957","journal-title":"Pediatrics"},{"key":"e_1_2_1_14_1","first-page":"314","article-title":"Congenital pulmonary lymphangiectasia","volume":"120","author":"Noonan JA","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1001\/jama.1982.03330110056030","article-title":"Congenital bilateral chylothoraX. 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