A Rare Case Report of Meckel-Gruber Syndrome (MGS)

Authors: Bhavya S, Ravi Teja A*, Vijaya Kumari M and Veena M

DOI: 10.23880/crij-16000166

Volume 4, Issue 1

Abstract

Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. As an autosomal recessive disorder, the risk of recurrence of Meckel Gruber syndrome is 25%. The diagnosis of MGS is usually suspected with early prenatal ultrasound showing typical findings. As the patient was referred at 34 weeks, it was a late diagnosis. We report on a patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 34 weeks of gestation.

Keywords: Encephalocele; Anopthalmia; Anhydramnios; Ultrasound; Short limbs

View PDF