"Georg Gruber (1884-1977), a German physician 9 who first described the constellation of findings in 1934, terming it dysencephalia splanchnocystica"
"Meckel-Gruber syndrome is inherited in an autosomal recessive fashion; the risk of the condition affecting a subsequent child is therefore 25% 1. There is genetic heterogeneity with at least three genes (MKS1, MKS2 and MKS3) having been identified 4,7:"
"MKS1: on chromosome 17q"
"MKS2: on chromosome 11q"
"MKS3: on chromosome 8q or 13q"
"Dandy-Walker malformation"
"Johann Friedrich Meckel (the younger) (1781-1833), a German anatomist (also known for Meckel diverticulum) 9"
"Georg Gruber (1884-1977), a German physician 9 who first described the constellation of findings in 1934, terming it dysencephalia splanchnocystica"
Expected headings
"Associations"
"The incidence is estimated to be 1:135,000, although much more prevalent (1:9000) in Finland, Belgium and certain populations in India and the Middle East 10."
"Meckel-Gruber syndrome is inherited in an autosomal recessive fashion; the risk of the condition affecting a subsequent child is therefore 25% 1. There is genetic heterogeneity with at least three genes (MKS1, MKS2 and MKS3) having been identified 4,7:"
"Meckel-Gruber syndrome is inherited in an autosomal recessive fashion; the risk of the condition affecting a subsequent child is therefore 25% 1. There is genetic heterogeneity with at least three genes (MKS1, MKS2 and MKS3) having been identified 4,7:"