Recurrent Meckel - Gruber syndrome

Authors

  • Valia Hernández Viel Centro Provincial de Genética Médica, Santiago de Cuba
  • Humberto Gómez Pérez Centro Provincial de Genética Médica, Santiago de Cuba
  • Dulce Echavarría Estenoz Centro Provincial de Genética Médica, Santiago de Cuba

Keywords:

adolescent, pregnancy, Meckel - Gruber syndrome, monogenic disease, lethal disease.

Abstract

The case report of an 18 years adolescent with 20.1 weeks of gravidity is described who was referred for the first time in 2009 to the Genetics Provincial Center, when she was already married with her current couple.  Since that time on, a series of unfavorable obstetric events appeared and, finally, taking into account the echographic findings and its recurrence in the same patient, it was proven that she and her husband were carriers of the mutation that produces the Meckel - Gruber syndrome.  

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Author Biography

Valia Hernández Viel, Centro Provincial de Genética Médica, Santiago de Cuba

radiologa centro provincial de genetica

References

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8. Martínez Medel J, Sanz Asín O, Amat Villegas I, Azcona Ruiz B, Cabistany Esqué AC, Martín de Marcos E. Síndrome de Meckel. Diagnóstico prenatal y diagnóstico diferencial. Prog Obstetr Ginecol. 2012;55(6):269-73.

9. Medina ML, Saldarriaga W, Isaza C, Pachajoa H. Síndrome de Meckel con onfalocele y labio fisurado. Rev Cubana Obstetr Ginecol. 2014 [citado 5 Abr 2015]; 40(2): 272-8. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0138-600X2014000200014&lng=es

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Published

2016-04-07

How to Cite

1.
Hernández Viel V, Gómez Pérez H, Echavarría Estenoz D. Recurrent Meckel - Gruber syndrome. MEDISAN [Internet]. 2016 Apr. 7 [cited 2025 Jun. 4];20(4). Available from: https://medisan.sld.cu/index.php/san/article/view/292

Issue

Vol. 20 No. 4 (2016): MEDISAN

Section

Case Reports

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