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Am J Med Genet A. 2003 Jul 1;120A(1):92-6.

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.

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  • 1Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genoa, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy. carlobellini@ospedale-gaslini.ge.it


We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.

Copyright 2003 Wiley-Liss, Inc.

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