LAUSR

A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.