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  • Title: Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
    Author: Khurana S, Saini V, Wadhwa V, Kaur H.
    Journal: J Ultrasound; 2017 Jun; 20(2):167-170. PubMed ID: 28593008.
    Abstract:
    Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy. La sindrome di Meckel–Gruber (MGS) è una rara anomalia autosomatica recessiva caratterizzata dalla triade classica composta da encefalo occipitale, reni policistici e polidattilìa postassiale. Descriviamo un caso di MGS classica, diagnosticata con ecografia ed analisi genetiche, successivamente confermata dal test autoptico del feto.
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