title: Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.
abstract: Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so-called "molar tooth sign" (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS-related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.
authors.affiliation: Division of Child Neurology, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Giordano
authors.forename: A
authors.initials: A
authors.lastname: Vignoli
authors.forename: L
authors.initials: L
authors.lastname: Pinelli
authors.forename: F
authors.initials: F
authors.lastname: Brancati
authors.forename: P
authors.initials: P
authors.lastname: Accorsi
authors.forename: F
authors.initials: F
authors.lastname: Faravelli
authors.forename: R
authors.initials: R
authors.lastname: Gasparotti
authors.forename: T
authors.initials: T
authors.lastname: Granata
authors.forename: G
authors.initials: G
authors.lastname: Giaccone
authors.forename: F
authors.initials: F
authors.lastname: Inverardi
authors.forename: C
authors.initials: C
authors.lastname: Frassoni
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: R
authors.initials: R
authors.lastname: Spreafico
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000025:Abortion, Eugenic; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D011247:Pregnancy; D035781:Siblings; D013577:Syndrome