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Twenty‐one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome
Author(s) -
Knopp C.,
RudnikSchöneborn S.,
Zerres K.,
Gencik M.,
Spengler S.,
Eggermann T.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36825
Subject(s) - beckwith–wiedemann syndrome , medicine , gigantism , pediatrics , genetics , biology , gene expression , gene , dna methylation
Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson–Golabi–Behmel syndrome (SGBS) and Beckwith–Wiedemann syndrome (BWS) which share pre‐ and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions. © 2014 Wiley Periodicals, Inc.