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• W59344671 startingPage "221" @default.
• W59344671 abstract "Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated with defects in the structure and/or the function of the primary cilium. The cardinal features of Meckel syndrome include the triad of brain anomalies (usually an occipital encephalocele), cystic renal dysplasia, and hepatic ductal plate malformation, in conjunction with a variety of other more variable malformations, such as polydactyly. MKS is typically lethal in the perinatal period. The genetic defects in MKS involve at least five genes that localize to the primary cilium and/or the basal body. Joubert syndrome and related disorders are characterized by a complex hindbrain malformation identified on axial magnetic resonance imaging (MRI) known as the molar tooth sign (MTS), as well as intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other congenital anomalies, including retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis, have been described. In contrast to MKS, most children with this condition survive infancy to reach adulthood. At least seven genes cause JSRD, with the MKS3 gene more likely to be associated with hepatic fibrosis and the JSRD subtype known as COACH syndrome. In fact, the JSRD genes associated with liver (and other) phenotypes overlap with the MKS genes, illustrating the close association of these two disorders and their shared etiology in coding for proteins important in the function of the primary cilium." @default.
• W59344671 created "2016-06-24" @default.
• W59344671 creator A5002322936 @default.
• W59344671 creator A5007699190 @default.
• W59344671 creator A5078845326 @default.
• W59344671 date "2010-01-01" @default.
• W59344671 modified "2023-09-23" @default.
• W59344671 title "Meckel and Joubert Syndromes" @default.
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