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  • Title: Meckel-Gruber syndrome (dysencephalia splanchnocystica).
    Author: Shetty BP, Alva N, Patil S, Shetty R.
    Journal: J Contemp Dent Pract; 2012 Sep 01; 13(5):713-5. PubMed ID: 23250180.
    Abstract:
    Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians.
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