Introduction:

Meckel-Gruber syndrome is an autosomal recessive disease; caused by primary ciliary dysfunction during early embryogenesis. Its incidence is variable and depends on the geographical region and ethnic origin.

Clinical case:

21-year-old female, referred by second level center; due to a 19-week pregnancy and malformed fetus. A structural ultrasound was performed that reported occipital encephalocele, bilateral renal cystic dysplasia; integrating the ultrasound diagnosis of Meckel-Gruber. Based on the above (predict poor function and life of the fetus) it was proposed to terminate the pregnancy. An anatomopathological study was carried out that described occipital encephalocele, renal cystic dysplasia, and left postaxial polydactyly. Based on the ultrasound and pathological findings, the definitive diagnosis of Meckel-Gruber is integrated.

Conclusion:

Meckel-Gruber syndrome is a pathology that presents a lethal prognosis both for the life and function of the fetus. It is important to carry out the prenatal diagnosis of the disease early, to allow the establishment of adequate subsequent genetic-reproductive management.