Weaver Syndrome

Authors

  • Elayne Esther Santana Hernández Centro Provincial de Genética Médica. Holguín.
  • Rafael Alfredo Llauradó Robles Hospital Pediátrico Provincial "Octavio de la Concepción de la Pedraja". Holguín.

Keywords:

GENETIC DISEASES, INBORN, GROWTH

Abstract

Weaver syndrome is a rare genetic disease characterized by a rapid growth, a typical facial appearance and a variable intellectual disability. This study presents the case of a 9-year-old male patient with an overgrowth, an accelerated bone age, characteristic facial features and camptodactyly associated with moderate intellectual disability, who was referred to the Provincial Center of Medical Genetics of Holguín. After assessing the case, with a decisive multidisciplinary work, a diagnosis of this syndrome was made. This was the first report of a case with this condition in the province. The necessary genetic advice was conducted.

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Author Biographies

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica. Holguín.

Especialista de Segundo Grado en Medicina General Integral y Genética Clínica. Máster en Atención Integral al Niño. Investigador Agregado.

Porfesora Asistente. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.

Rafael Alfredo Llauradó Robles, Hospital Pediátrico Provincial "Octavio de la Concepción de la Pedraja". Holguín.

Especialista de Seguno Grado en Pediatría. Investigador Agregado.

Profesor Consultante. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.

References

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McClure M, Kim E, Bickhart D, Null D, Cooper T, Cole J, et al. Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2. PLoS One [revista en internet]. 2013 [citado 3 de febrero 2017]; 8(3): e59251. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/23527149.

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Published

2017-02-22

How to Cite

1.
Santana Hernández EE, Llauradó Robles RA. Weaver Syndrome. Rev. electron. Zoilo [Internet]. 2017 Feb. 22 [cited 2025 Sep. 18];42(2). Available from: https://revzoilomarinello.sld.cu/index.php/zmv/article/view/1031

Issue

Vol. 42 No. 2 (2017): March-April

Section

Case reports

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