Villa-Quigüirí AF, Crespo D

Language: Spanish
References: 20
Page: 39-43
PDF size: 598.86 Kb.

ABSTRACT

In the Hospital Jose Maria Velasco Ibarra of the city of Tena in the province of Napo, republic of Ecuador, there is an infrequent clinical case, the Meckel-Gruber syndrome, in a female neonate, product of sixth gestation, son of indigenous parents, coming from the community Tamiahurco, Misahuallí, Napo; Obtained by cesarean delivery at 43.2 weeks of gestation, presenting the characteristic phenotype at birth. The Meckel-Gruber syndrome is characterized mainly by the presence of the triad: occipital encephalocele, polycystic kidneys and postaxial polydactyly. It is a patology autosomal recessive disease, occurring almost always in cases of consanguinity, affecting any race and ethnicity. Its recurrence rate is 25% and its mortality rate is 100%. Currently ultrasound is the best means of prenatal diagnosis of this lethal malformation.

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