title: Familial occurrence of congenital pulmonary lymphangiectasis. Genetic implications.
abstract: Congenital pulmonary lymphangiectasis (CPL) is a rare, generalized disease of the lung, consisting of lymphatic cysts in the subpleural and interlobular connective tissue. This disorder typically manifests a clinical picture of acute respiratory distress with cyanosis shortly after birth, with death occurring in the neonatal period. Several cases of this disorder have been described in the literature, but there has been no family with more than one affected child. We report the first instance, to our knowledge, of familial cases of CPL, which raises an important question regarding a possible genetic component in this disorder. The implications of this are discussed.
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D008200:Lymphangiectasis / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications