The Power of Prenatal Insight: Early Diagnosis of Meckel Gruber Syndrome

Abstract

The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. we presented case series of patients with Meckel Gruber syndrome. In the first presented case, 2 of the hallmark features of MKS were identified, i.e., an occipital encephalocele & bilateral renal dysplasia. Bilateral clubfoot was also noted. The second case revealed a pathogenic variant in the MKS1 gene (heterozygous) , associated with Meckel syndrome. In this instance, the presence of orofacial clefts and bilateral clubfoot raised the possibility of this diagnosis. The second case was found to have a pathogenic variant in the AMER1 gene associated with Osteopathia striata with cranial sclerosis (OS-CS). These two cases emphasize the critical role of early prenatal screening, the wide phenotypic spectrum of Meckel Gruber syndrome, the necessity of genetic testing for accurate diagnosis, and counselling to support informed decision-making in future pregnancies