OBJECTIVES: To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. METHODS: The patient presented at 33(+4) weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal ascites. In utero thoracocentesis was performed and delivery was induced. Follow-up at 12 months of age revealed moderate bilateral foot edema with otherwise normal development. RESULTS: The diagnosis of PCL was suspected on the basis of the family history. DNA analysis revealed a novel missense mutation, E1106K, in the tyrosine kinase domain of the vascular endothelial growth factor receptor 3 gene (VEGFR3/FLT4). CONCLUSION: PCL should be considered in the differential diagnosis of hydrops fetalis. Knowledge of the favorable course, variable clinical presentation, therapy options and genetic basis should contribute to better pregnancy counseling and management. Copyright 2005 John Wiley & Sons, Ltd.
OBJECTIVES: To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. METHODS: The patient presented at 33(+4) weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal ascites. In utero thoracocentesis was performed and delivery was induced. Follow-up at 12 months of age revealed moderate bilateral foot edema with otherwise normal development. RESULTS: The diagnosis of PCL was suspected on the basis of the family history. DNA analysis revealed a novel missense mutation, E1106K, in the tyrosine kinase domain of the vascular endothelial growth factor receptor 3 gene (VEGFR3/FLT4). CONCLUSION: PCL should be considered in the differential diagnosis of hydrops fetalis. Knowledge of the favorable course, variable clinical presentation, therapy options and genetic basis should contribute to better pregnancy counseling and management. Copyright 2005 John Wiley & Sons, Ltd.
Authors: Carole Sargent; Julien Bauer; Muhamed Khalil; Parker Filmore; Michael Bernas; Marlys Witte; M Peggy Pearson; Robert P Erickson Journal: Am J Med Genet A Date: 2014-09-22 Impact factor: 2.802
Authors: Teresa N Sparks; Billie R Lianoglou; Rebecca R Adami; Ilina D Pluym; Kerry Holliman; Jennifer Duffy; Sarah L Downum; Sachi Patel; Amanda Faubel; Nina M Boe; Nancy T Field; Aisling Murphy; Louise C Laurent; Jennifer Jolley; Cherry Uy; Anne M Slavotinek; Patrick Devine; Ugur Hodoglugil; Jessica Van Ziffle; Stephan J Sanders; Tippi C MacKenzie; Mary E Norton Journal: N Engl J Med Date: 2020-10-07 Impact factor: 91.245