Beckwith Wiedemann syndrome

Authors

  • Diego López Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay
  • Inés André Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay
  • Silvia Koziol Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay
  • María Agustina Acosta Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay
  • Mariela Álvarez Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay

DOI:

https://doi.org/10.47196/da.v28i4.2249

Keywords:

Beckwith-Wiedemann syndrome, overgrowth, genodermatoses, childhood cancer

Abstract

Beckwith-Wiedemann syndrome is a complex and infrequent genetic disorder associated with chromosome 11p15 changes characterized by overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia and predisposition to embryonal tumors. It is diagnosed following different clinical and para-clinical diagnostic criteria and its early diagnosis is essential due to the risk of complications, highlighting the increased incidence of different tumors. We present the case of a 6-month-old girl, with no personal nor family history of significance, in whom Beckwith-Wiedemann syndrome diagnosis was made and a close follow-up was undertaken.

Author Biographies

Diego López, Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay

Dermatology Resident. Chair of dermatology

Inés André, Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay

Pediatric Resident. Pediatric Clinic C

Silvia Koziol, Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay

Pediatrician. Pediatric Clinic Assistant C

María Agustina Acosta, Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay

Dermatologist, Pediatric Dermatology Unit. Former Assistant, Chair of Dermatology

Mariela Álvarez, Pereira Rossell Hospital Center, Hospital de Clínicas, Faculty of Medicine, Udelar, Montevideo, Uruguay

Dermatologist. Director of the Pediatric Dermatology Unit. Former Adjunct Professor, Chair of Dermatology

References

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Revista de la Sociedad Argentina de Dermatología N° 4 de 2022

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Published

2022-12-05

Issue

Vol. 28 No. 4 (2022): September-December 2022

Section

Clinical Cases

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Copyright (c) 2022 on behalf of the authors. Reproduction rights: Argentine Society of Dermatology.

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