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Underdiagnosed Beckwith–Wiedemann syndrome among early onset obese children
  1. Gabriel Á Martos-Moreno1,2,3,
  2. Clara Serra-Juhé4,5,6,
  3. Luis A Pérez-Jurado4,5,6,
  4. Jesús Argente1,2,3
  1. 1Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain
  2. 2Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain
  3. 3CIBER Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain
  4. 4Genetics Unit, Universitat Pompeu Fabra, Barcelona, Spain
  5. 5Program in Neurosciences, Hospital del Mar Research Institute (IMIM), Barcelona, Spain
  6. 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain
  1. Correspondence to Professor Jesús Argente, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús & Universidad Autónoma de Madrid, Avenida Menéndez Pelayo, 65, Madrid 28009, Spain; jesus.argente{at}uam.es and Professor Luis A Pérez-Jurado; luis.perez@upf.edu.

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Childhood obesity is mostly multifactorial, although a proportion of cases have a highly penetrant genetic aetiology. Identifying a genetic cause of childhood obesity can have important implications for patients and relatives.

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with widely variable clinical phenotype that attenuates with age.1 Proposed criteria to warrant its clinical suspicion are the presence of at least three major, or two major plus one minor, features (table 1). Early diagnosis of BWS is relevant because of the increase in risk for malignancies (Wilms tumour and hepatoblastoma). Periodical abdominal ultrasonographic survey and plasma α fetoprotein level determination during infancy and childhood must be done.1 ,2

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Table 1

Clinical features of patients (both females of European ancestry), with respect to the clinical criteria of BWS

Various genetic and epigenetic aberrations affecting the imprinted 11p15.5 locus can cause BWS, by downregulation of maternally expressed genes and/or upregulation of paternally expressed genes (figure 1A).3 The most common defects are the loss of methylation at IC2 (50%), uniparental paternal disomy at 11p15.5 (20%), gain of methylation at IC1 (5%) and point mutations in the maternal allele of CDKN1C. Duplications, inversions or …

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