Objective: Meckel-Gruber Syndrome (MGS) is a lethal rare autosomal recessive malformation. The six implicated genes encode proteins involved in primary cilia function. Groups of families in Finland, India and North of Africa have been identified. Method: A fetus,46 XY, karyotype, therapeutically aborted at 21 weeks with alobar holoprosencephaly in ultrasound. Fetal autopsy was performed. Genetic counseling was proposed to the family revealing Moroccan origin and consanguinity, the parents were first cousins. Results: A male fetus showing cyclopia, proboscis and a single opening with two rudimentary eyes was the external morphology. Histological examination confirmed holoprosencephaly and also showed bilateral corticomedullary renal multicystic and periportal hepatic fibrosis with bile duct dilatation. The main diagnosis was MGS although other ciliophaties and non-ciliopathies conditions were considered, such as Bardet-Bield, Joubert, Smith-Lemli-Opitz syndrome and trisomy 13. However, the pathological characterization, parent's consanguinity and their North African origin makes MGS the likely diagnosis.A genetic study on paraffin-embedded material was requested, the poor quality of DNA stopped definitive genetic diagnosis. Conclusion: The pathologist may encounter atypical cases that require morphologic diagnosis to determine the type of underlying mutation and provide genetic counseling to parents.A meticulous autopsy is necessary to establish the diagnosis of MGS. Fresh material would have to be frozen in order to make current diagnostic techniques of molecular pathology.