The Case of Recurrent Lethal Fetal Syndrome: Meckel–Gruber Syndrome

نویسندگان

  • Richa Aggarwal
  • Syed N Ahmad
  • Gita Radhakrishnan
  • AG Radhika
چکیده

Meckel–Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive at a working diagnosis of MGS. We report a case of MGS in a family with a history suggestive of multiple affected fetuses previously. Early diagnosis at 13 weeks gestation was made on antenatal ultrasound examination and the findings were confirmed on postabortal autopsy.

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تاریخ انتشار 2017