Meckel Gruber syndrome

review of literature

Abstract

OBJECTIVE: Meckel-Gruber syndrome is a rare, lethal, autosomal recessive disease, belonging to the group of ciliopathies with
phenotypical characteristics of encephalocele, large polycystic kidneys and postaxial polydactyly. 
AIMS: to describe the phenotypical evaluation, diagnosis, evolution and prognosis in pregnancies with malformations in the
Meckel-Gruber syndrome. 
METHODOLOGY: PUBMED database was searched with the following keywords: Meckel-Gruber syndrome. Of the 124 papers retrieved, 29 were selected for this descriptive review.
RESULTS: Ten different genes located on distinctive chromosomal loci were known, with the potential to alter specific proteins and, therefore, lead to failure in the induction of fetal morphogenesis, which leads to a variety of phenotypic abnormalities in the Meckel – Gruber syndrome.
CONCLUSION: With the improvement of high-resolution ultrasonography, the diagnosis of Meckel-Gruber syndrome in the first trimester of pregnancy has been facilitated. A chromosome analysis is performed to rule out trisomy 13. Pathological studies in abortions and stillbirths frequently have to be performed.