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2016, Number 04

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MediSan 2016; 20 (04)

Recurrent Meckel-Gruber syndrome

Hernández VV, Gómez PH, Echavarría ED
Full text How to cite this article

Language: Spanish
References: 9
Page: 505-509
PDF size: 39.76 Kb.


Key words:

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.


REFERENCES

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  2. Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol. 2007;46(1):9-14.

  3. García Morales AM, Juárez Azpilcueta A, Durán Padilla MA, Islas Domínguez LP, Valdés Miranda JM. Síndrome de Meckel-Gruber. Rev Mex Pediatr. 2005;72(5); 240-2.

  4. Myageri A, Grampurohit V, Rao R. Meckel gruber syndrome: report of two cases with review of literature. J Family Med Prim Care. 2013;2(1):106-8.

  5. Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, et al. The Meckel Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007;16(2):173-86.

  6. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med. 2011; 364(16):1533-43.

  7. Alam A, Adhi M, Bano R, Zubair A, Mushtaq A. Meckel Gruber syndrome: second trimester diagnosis of a case in a non-consanguineous marriage. Pak J Med Sci. 2013;29(1):234-6.

  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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