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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Definitions
Initially described in 1822 by Johann Meckel in a pair of siblings
Georg Gruber described fetuses with dysencephalia splanchnocystica in 1934
Classic triad of findings
Renal cystic dysplasia in 95-100%
Encephalocele or other CNS abnormality in 90%
Postaxial polydactyly in 55-75%
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Barisic I et al: Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 23(6):746-52, 2015
Barker AR et al: Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis. 10(1):96-107, 2014
Jones D et al: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol. 44(6):719-21, 2014
Eckmann-Scholz C et al: Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet. 286(4):917-21, 2012
Venkatachala S et al: Meckel syndrome with Caroli disease and choledochal cysts. Fetal Pediatr Pathol. 30(5):350-4, 2011
Gupta P et al: MRI in a fetus with Meckel-Gruber syndrome. Pediatr Radiol. 38(1):122, 2008
Consugar MB et al: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 121(5):591-9, 2007
Dawe HR et al: The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 16(2):173-86, 2007
Alexiev BA et al: Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 130(8):1236-8, 2006
Chaumoitre K et al: Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol. 28(7):911-7, 2006
Guven MA et al: Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. Genet Couns. 17(1):65-8, 2006
Ickowicz V et al: Meckel-Grüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol. 27(3):296-300, 2006
Liu SS et al: First-trimester ultrasound diagnosis of Meckel-Grüber syndrome. Acta Obstet Gynecol Scand. 85(6):757-9, 2006
Walsh M et al: Meckel-Gruber syndrome in association with an occipital meningocele. Pediatr Neurosurg. 42(5):333-4, 2006
Mittermayer C et al: Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med. 25(4):275-9, 2004
Johnson CA et al: Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet. 40(5):311-9, 2003
Tanriverdi HA et al: Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case. Eur J Ultrasound. 15(1-2):69-72, 2002
Paavola P et al: Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet. 101(1):88-92, 1997
Yapar EG et al: Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. Clin Dysmorphol. 5(4):357-62, 1996
Paavola P et al: The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 11(2):213-5, 1995
Salonen R: The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 18(4):671-89, 1984
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Definitions
Initially described in 1822 by Johann Meckel in a pair of siblings
Georg Gruber described fetuses with dysencephalia splanchnocystica in 1934
Classic triad of findings
Renal cystic dysplasia in 95-100%
Encephalocele or other CNS abnormality in 90%
Postaxial polydactyly in 55-75%
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Barisic I et al: Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 23(6):746-52, 2015
Barker AR et al: Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis. 10(1):96-107, 2014
Jones D et al: First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol. 44(6):719-21, 2014
Eckmann-Scholz C et al: Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet. 286(4):917-21, 2012
Venkatachala S et al: Meckel syndrome with Caroli disease and choledochal cysts. Fetal Pediatr Pathol. 30(5):350-4, 2011
Gupta P et al: MRI in a fetus with Meckel-Gruber syndrome. Pediatr Radiol. 38(1):122, 2008
Consugar MB et al: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 121(5):591-9, 2007
Dawe HR et al: The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 16(2):173-86, 2007
Alexiev BA et al: Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 130(8):1236-8, 2006
Chaumoitre K et al: Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol. 28(7):911-7, 2006
Guven MA et al: Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. Genet Couns. 17(1):65-8, 2006
Ickowicz V et al: Meckel-Grüber syndrome: sonography and pathology. Ultrasound Obstet Gynecol. 27(3):296-300, 2006
Liu SS et al: First-trimester ultrasound diagnosis of Meckel-Grüber syndrome. Acta Obstet Gynecol Scand. 85(6):757-9, 2006
Walsh M et al: Meckel-Gruber syndrome in association with an occipital meningocele. Pediatr Neurosurg. 42(5):333-4, 2006
Mittermayer C et al: Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med. 25(4):275-9, 2004
Johnson CA et al: Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet. 40(5):311-9, 2003
Tanriverdi HA et al: Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case. Eur J Ultrasound. 15(1-2):69-72, 2002
Paavola P et al: Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet. 101(1):88-92, 1997
Yapar EG et al: Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. Clin Dysmorphol. 5(4):357-62, 1996
Paavola P et al: The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 11(2):213-5, 1995
Salonen R: The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 18(4):671-89, 1984
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