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

Arch Pathol Lab Med. 2006 Aug;130(8):1236-8. doi: 10.5858/2006-130-1236-MS.


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.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / embryology*
  • Central Nervous System Diseases / diagnosis*
  • Central Nervous System Diseases / embryology
  • Central Nervous System Diseases / genetics
  • Diagnosis, Differential
  • Encephalocele / diagnostic imaging
  • Encephalocele / embryology
  • Fetal Diseases / diagnosis*
  • Genes, Recessive
  • Humans
  • Liver / abnormalities
  • Multicystic Dysplastic Kidney / diagnostic imaging
  • Multicystic Dysplastic Kidney / embryology
  • Polycystic Kidney, Autosomal Recessive / diagnostic imaging
  • Polycystic Kidney, Autosomal Recessive / embryology
  • Polydactyly / diagnostic imaging
  • Polydactyly / embryology
  • Syndrome
  • Ultrasonography