Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

Am J Med Genet A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.

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.

Keywords: Beckwith-Wiedemann; GPC3 mutation; Simpson-Golabi-Behmel; overgrowth syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac / diagnosis*
  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Genetic Diseases, X-Linked / diagnosis*
  • Gigantism / diagnosis*
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis*
  • Male
  • Young Adult

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome