BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE: A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilical cord and prominent maternal ovaries. The patient developed HELLP syndrome at 28 weeks and delivered a viable female infant with distinct clinical features. The diagnosis of BWS was confirmed by hypermethylation of the H19 gene on chromosome 11p15.5. CONCLUSION: This case describes a novel presentation of BWS and underscores the diagnostic potential of routine prenatal screens.
BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE: A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilical cord and prominent maternal ovaries. The patient developed HELLP syndrome at 28 weeks and delivered a viable female infant with distinct clinical features. The diagnosis of BWS was confirmed by hypermethylation of the H19 gene on chromosome 11p15.5. CONCLUSION: This case describes a novel presentation of BWS and underscores the diagnostic potential of routine prenatal screens.
Authors: Deborah Tamura; Melissa Merideth; John J DiGiovanna; Xiaolong Zhou; Margaret A Tucker; Alisa M Goldstein; Brian P Brooks; Sikandar G Khan; Kyu-Seon Oh; Takahiro Ueda; Jennifer Boyle; Roxana Moslehi; Kenneth H Kraemer Journal: Prenat Diagn Date: 2011-07-29 Impact factor: 3.050
Authors: Paolo Guanciali-Franchi; Luisa Di Luzio; Irene Iezzi; Claudio Celentano; Barbara Matarrelli; Marco Liberati; Giandomenico Palka Journal: J Prenat Med Date: 2012-01
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