A Antenatal Diagnostic of Lethal and a Rare Anomaly of Meckel Gruber Syndrome


Authors : Hassnaa Sarhane; Kaoutar Bahida; Maha Lhaloui; Amina Lakhdar; Najia Zraidi; Aziz Baydada; Nada Douraidi

Volume/Issue : Volume 10 - 2025, Issue 6 - June

Google Scholar : https://tinyurl.com/wf5v5u7r

DOI : https://doi.org/10.38124/ijisrt/25jun1202

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Abstract : Meckel-Gruber Syndrome (MKS) is a rare, lethal, congenital disorder, it’s been linked to chromosome 17, characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly, often accompanied by other anomalies such as a nervous system malformations and hepatic fibrosis. MKS can affect individuals of all races and ethnicities. We present a case of a 25-week fetus diagnosed prenatally with features consistent with MKS on routine ultrasound. The diagnosis was confirmed postnatally with the presence of occipital encephalocele, bilateral enlarged echogenic kidneys, and postaxial polydactyly. Genetic counseling was provided to the parents, and the pregnancy outcome, as well as the clinical implications, are discussed. This case accentuates the importance of antenatal diagnosis, multidisciplinary management, and genetic counseling in cases of suspected Meckel-Gruber Syndrome.

Keywords : Multicystic Dysplastic Kidneys, Encephalocele, Polydactyly, Prenatal Ultrasound Diagnosis, Autosomal Recessive Disorder, Meckel-Gruber Syndrome.

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Meckel-Gruber Syndrome (MKS) is a rare, lethal, congenital disorder, it’s been linked to chromosome 17, characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly, often accompanied by other anomalies such as a nervous system malformations and hepatic fibrosis. MKS can affect individuals of all races and ethnicities. We present a case of a 25-week fetus diagnosed prenatally with features consistent with MKS on routine ultrasound. The diagnosis was confirmed postnatally with the presence of occipital encephalocele, bilateral enlarged echogenic kidneys, and postaxial polydactyly. Genetic counseling was provided to the parents, and the pregnancy outcome, as well as the clinical implications, are discussed. This case accentuates the importance of antenatal diagnosis, multidisciplinary management, and genetic counseling in cases of suspected Meckel-Gruber Syndrome.

Keywords : Multicystic Dysplastic Kidneys, Encephalocele, Polydactyly, Prenatal Ultrasound Diagnosis, Autosomal Recessive Disorder, Meckel-Gruber Syndrome.

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