BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis of BWS is usually made in the postnatal period on the basis of physical exam features and hypermethylation of the H19 gene. CASE: A 30-year-old woman gravida 3, para 2, underwent maternal serum screening at 15 weeks' gestation. The screening was negative for Down's syn drome (risk 1/6085), but positive for NTDs. Further ultrasound examination at 20 and 30 weeks' evidenced a fetal overgrowth and a 3-D scan at 33 weeks' gestation presented a protruding tongue, and a fixed opened mouth caused by macroglossia. CONCLUSIONS: BWS was suspected on the basis of clinical features, and molecular analysis of critical region 11p15.5 revealing the hypermethylation of H19 gene supported the diagnosis.
BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis of BWS is usually made in the postnatal period on the basis of physical exam features and hypermethylation of the H19 gene. CASE: A 30-year-old woman gravida 3, para 2, underwent maternal serum screening at 15 weeks' gestation. The screening was negative for Down's syn drome (risk 1/6085), but positive for NTDs. Further ultrasound examination at 20 and 30 weeks' evidenced a fetal overgrowth and a 3-D scan at 33 weeks' gestation presented a protruding tongue, and a fixed opened mouth caused by macroglossia. CONCLUSIONS:BWS was suspected on the basis of clinical features, and molecular analysis of critical region 11p15.5 revealing the hypermethylation of H19 gene supported the diagnosis.
Authors: Carol L Clericuzio; Emily Chen; Dawn Elizabeth McNeil; Timothy O'Connor; Elaine H Zackai; Livija Medne; Gail Tomlinson; Michael DeBaun Journal: J Pediatr Date: 2003-08 Impact factor: 4.406
Authors: Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher Journal: Nat Rev Endocrinol Date: 2018-01-29 Impact factor: 43.330