Results 151 to 160 of about 1,250,329 (187)
Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report. [PDF]
Korean J OphthalmolGoh YH, Hwang S, Kim SJ.
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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]
Pharmgenomics Pers MedChen L +9 more
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A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]
Indian J NephrolShankar M +6 more
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Prenatal diagnosis of Joubert syndrome: A case report.
Radiol Case RepYen VTH.
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American Journal of Medical Genetics, Part A, 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 ...
Jorge M. Saraiva +2 more
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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 ...
Jorge M. Saraiva +2 more
exaly +3 more sources
Joubert syndrome diagnosed renally late. [PDF]
CKJ: Clinical Kidney Journal, 2021 Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults.
Michalis Georgiou +2 more
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Applied Radiology
Abstract Joubert syndrome is a rare genetic disorder characterized by a range of neurological and multisystemic features. It primarily affects the brain, causing a malformation of the cerebellum and brainstem, a distinctive abnormality recognizable as the “molar tooth sign” on brain imaging.
Lasya P. Daggumati +4 more
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Abstract Joubert syndrome is a rare genetic disorder characterized by a range of neurological and multisystemic features. It primarily affects the brain, causing a malformation of the cerebellum and brainstem, a distinctive abnormality recognizable as the “molar tooth sign” on brain imaging.
Lasya P. Daggumati +4 more
+8 more sources
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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Review of Ocular Manifestations of Joubert Syndrome
Genes, 2018 Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys.
Yang Sun, Ke Ning, Albert Y Wu
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