title: Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
abstract: Knobloch syndrome is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele, mainly in the occipital region. Intra and interfamilial variability is present since the encephalocele is not found in all patients, and the degree of myopia is variable. Analysis of the associated malformations suggests alterations during early neuroectodermal morphogenesis. Only 24 cases have been reported. Recently, the gene responsible for the syndrome, mapped to 21q22.3, was identified. The present study reports on four new cases, revealing the existence of neuronal migratory defects associated with the disorder for the first time.
authors.affiliation: Department of Pediatrics, Neuropediatrics Division, Santa Casa of São Paulo School of Medicine, São Paulo, Brazil. skliemann@hotmail.com
authors.forename: Susana E
authors.initials: SE
authors.lastname: Kliemann
authors.forename: Ricardo T L
authors.initials: RT
authors.lastname: Waetge
authors.forename: Oscar T
authors.initials: OT
authors.lastname: Suzuki
authors.forename: M Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Sérgio
authors.initials: S
authors.lastname: Rosemberg
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D043170:Collagen Type XVIII / Q000235:genetics; D004252:DNA Mutational Analysis; D004677:Encephalocele / Q000235:genetics* / Q000503:physiopathology; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D043170:Collagen Type XVIII