Meckel-Gruber syndrome: Pathologic manifestations, minimal diagnostic criteria, and differential diagnosis

Borislav A. Alexiev*, Xiaoqing Lin, Chen Chih Sun, David S. Brenner

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

74 Scopus citations

Abstract

This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the 14th week of gestation, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation. In these cases, a meticulous autopsy is necessary to establish the diagnosis of Meckel-Gruber syndrome.

Original languageEnglish (US)
Pages (from-to)1236-1238
Number of pages3
JournalArchives of Pathology and Laboratory Medicine
Volume130
Issue number8
StatePublished - Aug 1 2006

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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