Volume 8, Issue 4, July 2020, Page: 108-112
Meckel-Gruber Syndrome: A Case Report at RHUH
Darido Jessie, Department of Obstetrics and Gynecology, Rafic Hariri University Hospital, Beirut, Lebanon; Department of Obstetrics and Gynecology, Faculty of Medical Sciences, The Lebanese University, Beirut, Lebanon
Khazaal Janoub, Department of Obstetrics and Gynecology, Rafic Hariri University Hospital, Beirut, Lebanon; Department of Obstetrics and Gynecology, Faculty of Medical Sciences, The Lebanese University, Beirut, Lebanon
El Hachem Larissa, Department of Obstetrics and Gynecology, Faculty of Medicine, Holy Spirit University of Kaslik, Kaslik, Lebanon
Luk Melodie, Department of Obstetrics and Gynecology, Faculty of Medicine, Paris 12 University, Creteil, Ile de France, France
Chahine Rabih, Department of Obstetrics and Gynecology, Rafic Hariri University Hospital, Beirut, Lebanon
Received: Jul. 1, 2020;       Accepted: Jul. 13, 2020;       Published: Aug. 10, 2020
DOI: 10.11648/j.jgo.20200804.17      View  95      Downloads  37
Abstract
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.
Keywords
Meckel-Gruber, Syndromes, Ultrasound, Antenatal Diagnosis, Congenital Abnormalities
To cite this article
Darido Jessie, Khazaal Janoub, El Hachem Larissa, Luk Melodie, Chahine Rabih, Meckel-Gruber Syndrome: A Case Report at RHUH, Journal of Gynecology and Obstetrics. Vol. 8, No. 4, 2020, pp. 108-112. doi: 10.11648/j.jgo.20200804.17
Copyright
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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