Recurrent Meckel - Gruber syndrome

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.

Keywords

• adolescente, embarazo, síndrome de meckel - gruber, enfermedad monogénica, enfermedad letal.