Meckel-Gruber Syndrome: Pathologic Manifestations, Minimal Diagnostic Criteria, and Differential Diagnosis

Author:

Alexiev Borislav A.1,Lin Xiaoqing1,Sun Chen-Chih1,Brenner David S.1

Affiliation:

1. From the Department of Pathology, University of Maryland Medical System, Baltimore (Drs Alexiev and Sun); Department of Pathology, NYU Medical Center, New York, NY (Dr Lin); and Department of Pathology, Bayhealth Medical Center, Dover, Del (Dr Brenner)

Abstract

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.

Publisher

Archives of Pathology and Laboratory Medicine

Subject

Medical Laboratory Technology,General Medicine,Pathology and Forensic Medicine

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