Antenatal Diagnosis of Meckel Syndrome: A Case Report

Authors: Anibri M* , Benabdeslam R , ELHASSOUNI F and BARGACH S

DOI: 10.23880/whsj-16000241

Volume 9, Issue 1

Abstract

Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare and serious genetic disorder belonging to the group of ciliopathies (diseases affecting cell cilia). The syndrome is characterized by a combination of congenital malformations, including: Multi-cystic renal dysplasia: The kidneys are enlarged and filled with cysts, leading to severe renal failure. Occipital encephalocele: Herniation of brain tissue through a defect in the skull. Postaxial polydactyly: Presence of extra fingers or toes. We report a case of Meckel syndrome discovered on prenatal ultrasound in a pregnant patient of 39 weeks’ amenorrhea whose ultrasound scan showed multiple fetal malformations, including severe hydrocephalus, a poly malformative renal syndrome, and postaxial polydactyly affecting all four limbs, in association with an hydramnios. Unfortunately, the newborn passed away one hour later.

Keywords: Syndrome; Lethal; Malformations; Congenital; Ciliopathy

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