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Gaceta Médica Boliviana

On-line version ISSN 1012-2966


Q FREDDY, Maita; GALVARRO KARLA, Sánchez Soria; HOCHSTATTER, Erwin  and  CAMATA, Magali. Meckel Gruber syndrome: clinical case of family recurrence. Gac Med Bol [online]. 2017, vol.40, n.2, pp. 31-33. ISSN 1012-2966.

Meckel-Gruber is an uncommon lethal syndrome, it was described by Meckel in 1822 characterized by multiple congenital malformations, that mainly affects the head, kidneys and fingers; is a autosomal recessive inheritance, reported in consanguineous marriages, but also in non-consanguineous marriages. The worldwide incidence varies from in 13 250 to 140 000 live births. It is usually diagnosed from 18 weeks of pregnancy by ultrasound, although it can be done earlier in high-risk families. We reported the clinical case of a patient treated in Hospital Obrero No 2 de la Caja Nacional de Salud without a history of consanguinity with her partner with whom she had three pregnancies, of wich two had Meckel-Gruber syndrome.

Keywords : Meckel-Gruber síndrome; prenatal diagnosis; lethal malformation.

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