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  • Title: A rare case of Meckel-Gruber syndrome.
    Author: Chiriac DV, Hogea LM, Bredicean AC, Rednic R, Nussbaum LA, Hogea GB, Grigoraş ML.
    Journal: Rom J Morphol Embryol; 2017; 58(3):1023-1027. PubMed ID: 29250684.
    Abstract:
    Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, occipital meningoencephalocele). This case highlights the presence of MKS in a young female without family history.
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