Meckel Gruber syndrome in an indigenous newborn with no prenatal control

Alex Fabián Villa Quigüirí; Carlos Gafas González; Anabela del Rosario Criollo Criollo; Yosbanys Roque Herrera

2017, Number 4

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Revista Cubana de Obstetricia y Ginecología 2017; 43 (4)

Meckel Gruber syndrome in an indigenous newborn with no prenatal control

Villa QAF, Gafas GC, Criollo CAR, Roque HY

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Language: Spanish
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Page: 84-92
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ABSTRACT

At José María Velasco Ibarra Hospital in Tena, Napo province, in the Republic of Ecuador, the case of a female neonate with Meckel Gruber Syndrome is reported. This infant is the result of a pregnancy with no prenatal follow-up, non-consanguineous indigenous parents, from the Tamiahurco Amazon community, in Misahuallí. This newborn had the diagnostic triad of polycystic hyperplastic kidneys, occipital encephalocele and bilateral postaxial polydactyly, which determined this disease diagnosis of certainty, in which at least two of these elements must be present. Other symptoms are oral, genital malformations, hepatic fibrosis and malformations of the Central Nervous System (CNS).