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Journal of Ultrasound

, Volume 20, Issue 2, pp 167–170 | Cite as

Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation

  • Shruti KhuranaEmail author
  • Vikram Saini
  • Vibhor Wadhwa
  • Harveen Kaur
Case Report
  • 130 Downloads

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.

Keywords

Meckel–Gruber syndrome Fetal autopsy Ultrasonography 

Sommario

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.

Notes

Compliance with ethical standards

Conflict of interest

There are no conflicts of interest.

Ethical approval

This study involves postmortem autopsy of the fetal human specimen. No animals were involved in the study.

Informed consent

An informed consent was obtained from the patient for the termination of pregnancy, fetal autopsy and histopathological examination of the specimens.

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Copyright information

© Società Italiana di Ultrasonologia in Medicina e Biologia (SIUMB) 2017

Authors and Affiliations

  1. 1.Department of Gastroenterology, Hepatology and NutritionUniversity of Texas Health Science Center at HoustonHoustonUSA
  2. 2.Center for Tuberculosis ResearchJohns Hopkins University School of MedicineBaltimoreUSA
  3. 3.University of Arkansas for Medical SciencesLittle RockUSA
  4. 4.Department of Obstetrics and GynecologyMaulana Azad Medical CollegeNew DelhiIndia

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