Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Kelly A Duffy; Christopher M Cielo; Jennifer L Cohen; Christina X Gonzalez-Gandolfi; Jessica R Griff; Evan R Hathaway; Jonida Kupa; Jesse A Taylor; Kathleen H Wang; Arupa Ganguly; Matthew A Deardorff; Jennifer M Kalish

doi:10.1002/ajmg.c.31740

Clinical Guidelines and Standards · Diagnostic Criteria and Classification

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM

Published December 2019 American journal of medical genetics. Part C, Seminars in medical genetics

DOI 10.1002/ajmg.c.31740 PMID 31469230 PMC PMC7959855

Abstract

Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith-Wiedemann spectrum (BWSp). The BWSp can be further divided into three subsets of patients: those presenting with classic features, those presenting with isolated lateralized overgrowth (ILO) and those not fitting into the previous two categories, termed atypical BWSp. Previous reports of patients with BWS have focused on those with the more recognizable, classic features, and limited information is available on those who fit into the atypical and ILO categories. Here, we present the first cohort of patients recruited across the entire BWSp, describe clinical features and molecular diagnostic characteristics, and provide insight into practical diagnosis and management recommendations that we have gained from this cohort.

Topics

Clinical Guidelines and Standards Diagnostic Criteria and Classification Staging and Classification Systems

Clinical Guidelines and Standards › Diagnostic Criteria and Classification › Staging and Classification Systems

Kelly A Duffy, Christopher M Cielo, Jennifer L Cohen, Christina X Gonzalez-Gandolfi, Jessica R Griff, Evan R Hathaway, Jonida Kupa, Jesse A Taylor, Kathleen H Wang, Arupa Ganguly, Matthew A Deardorff, Jennifer M Kalish

K Duffy, Chris Cielo, C Cielo, Jen Cohen, Jenny Cohen, J Cohen, C Gonzalez-Gandolfi, Jess Griff, J Griff, E Hathaway, J Kupa, J Taylor, K Wang, A Ganguly, Matt Deardorff, M Deardorff, Jen Kalish, Jenny Kalish, J Kalish

PMID 31469230 31469230 DOI 10.1002/ajmg.c.31740 10.1002/ajmg.c.31740 Duffy et al. 2019, Duffy 2019

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Abstract

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