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- W4302316098 abstract "Meckel syndrome is an autosomal recessive condition with a wide phenotypic variation. The most consistent features are cystic kidneys and intrahepatic bile duct anomalies, frequently accompanied by central nervous system (CNS) malformations and Polydactyly. Approximately one sixth of all cases also show skeletal anomalies. We present two cases, siblings bom to a consanguineous couple, in whom there was a striking curvature and shortening of the long bones in addition to cystic kidneys, CNS abnormalities, and Polydactyly. Histological examination of the long bones in the second affected sibling showed mid-diaphysial ectopic cartilaginous growth plates differentiating the long bone changes from other skeletal dysplasias with similar radiological features." @default.
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- W4302316098 date "1997-01-01" @default.
- W4302316098 modified "2023-10-16" @default.
- W4302316098 title "Skeletal Abnormalities in Meckel Syndrome" @default.
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- W4302316098 doi "https://doi.org/10.1080/15513819709168740" @default.
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