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Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome.
Ophthalmic Plastic and Reconstructive Surgery, 2023Congenital opticmeningoceles was the term coined to describe large pseudocystic lesions of the intraorbital segment of the optic nerve. This extremely rare congenital anomaly was reported unilaterally only in nonsyndromic patients with fully developed ...
A. Cruz +3 more
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[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023OBJECTIVE To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected
Dengzhi Zhao +8 more
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Archives of Ophthalmology, 1989
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We
S R, Lambert +4 more
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Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We
S R, Lambert +4 more
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Nursing Children and Young People, 2017
Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
Doreen, Crawford, Annette, Dearmun
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Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
Doreen, Crawford, Annette, Dearmun
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American Journal of Medical Genetics Part A, 2017
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and ...
Dempsey, Jennifer C +5 more
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Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and ...
Dempsey, Jennifer C +5 more
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American Journal of Medical Genetics, 1992
AbstractWe review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of ...
Michael Baraitser, Jorge M. Saraiva
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AbstractWe review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of ...
Michael Baraitser, Jorge M. Saraiva
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Neuropathology of Joubert Syndrome
Journal of Child Neurology, 1999Very little documentation of the neuropathologic changes in Joubert syndrome exists. This paper presents a detailed postmortem neuropathologic study of a clinically and radiographically well-documented case of Joubert syndrome. In addition to aplasia of the cerebellar vermis and fragmentation of the dentate nuclei, there was marked dysplasia of ...
Anthony T. Yachnis, Lucy B. Rorke
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European Journal of Radiology, 1994
To report five cases of the rare Joubert's syndrome.All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus.The T1WI of MRI showed characteristic MRI features of Joubert's syndrome ...
San-Kan Lee +5 more
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To report five cases of the rare Joubert's syndrome.All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus.The T1WI of MRI showed characteristic MRI features of Joubert's syndrome ...
San-Kan Lee +5 more
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Journal of Pediatric Neurology online, 2022
Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities.
M. Amorini +9 more
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Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities.
M. Amorini +9 more
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Ophthalmıc fındıngs ın Joubert syndrome 25: A case report
Indian Journal of Ophthalmology - Case ReportsJoubert syndrome (JBTS; OMIM PS213300) is a rare autosomal recessive disease classified as a ciliopathy. The diagnosis of JBTS is based on three criteria: a characteristic brain imaging finding known as the “molar tooth sign,” hypotonia, and ...
Tülin Oğreden, Mehmet Büyüktiyaki
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