title: Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.
abstract: 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.
authors.affiliation: Institute of Human Genetics, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Knopp
authors.forename: S
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: M
authors.initials: M
authors.lastname: Gencik
authors.forename: S
authors.initials: S
authors.lastname: Spengler
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
mesh_terms: D001145:Arrhythmias, Cardiac / Q000175:diagnosis*; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D005877:Gigantism / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D055815:Young Adult
keywords: Beckwith-Wiedemann; GPC3 mutation; Simpson-Golabi-Behmel; overgrowth syndrome