Results 201 to 210 of about 2,206,162 (231)

Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant

Neuropediatrics, 2022
Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (MTS), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor ...
Daisuke Uda, Hidehito Kondo, Koichi Tanda, Z. Kizaki, Masashi Nishida, H. Dai, M. Itoh   +6 more
semanticscholar   +1 more source

MRI of Joubert's syndrome

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, Wen-Jye Shian, Kuan-Rong Lee, Chi-Chan Chen, Ching-Shiang Chi, Wu-Chung Shen   +5 more
openaire   +3 more sources

An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

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, G. Iapadre, Alessio Mancuso, I. Ceravolo, G. Farello, A. Scardamaglia, S. Gramaglia, A. Ceravolo, A. Salpietro, C. Cuppari   +9 more
semanticscholar   +1 more source

Novel compound heterozygous variants in ARL13B lead to Joubert syndrome

Journal of Cellular Physiology
Joubert syndrome (JBTS) is a systematic developmental disorder mainly characterized by a pathognomonic mid‐hindbrain malformation. All known JBTS‐associated genes encode proteins involved in the function of antenna‐like cellular organelle, primary cilium,
Zaisheng Lin, Yue Shen, Yan Li, Chao Lu, Ying Zhu, Ruida He, Zongfu Cao, Zhe Yin, Huafang Gao, Bin Guo, Xu Ma, Muqing Cao, Minna Luo   +12 more
semanticscholar   +1 more source

Management of a patient with Joubert syndrome using dynamic neuromuscular stabilisation technique to improve postural control: a case report

International Journal of Therapy and Rehabilitation
Joubert syndrome is a rare genetic disorder of midbrain–hindbrain malformation characterised by cerebellar ataxia, hypotonia, intellectual disability, delayed milestones, ocular and respiratory impairment.
M. Devi, Ashwani Kumar, Amit Kumar
semanticscholar   +1 more source

Ophthalmıc fındıngs ın Joubert syndrome 25: A case report

Indian Journal of Ophthalmology - Case Reports
Joubert 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
semanticscholar   +1 more source

[Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290].

Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova, 2022
Joubert syndrome (JS) is a recessive neurodegenerative disease characterized by hypotonia, ataxia, psychomotor delay, oculomotor and visual impairments. JS shows clinically variability and genetic heterogeneity.
D. I
semanticscholar   +1 more source

Ophthalmological Findings in Joubert Syndrome and Related Disorders

Journal of Pediatric Neurology online, 2022
Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the cerebellar vermis resulting in breathing defects, ataxia, and delayed ...
I. Ceravolo, F. Granata, E. Gitto, G. Iapadre, R. Chimenz, N. Giannitto, Alessio Mancuso, M. Ceravolo, Tommaso La Macchia, Federico Rissotto, G. Farello, C. Cuppari   +11 more
semanticscholar   +1 more source

Joubert’s syndrome and prenatal hydrocephalus

Pediatric Neurology, 1999
Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ...
Michael T. Gorey, Jeffrey S. Anderson, Joseph F. Pasternak, Barbara L. Trommer   +3 more
openaire   +3 more sources

Breathing instability in Joubert syndrome

Movement Disorders, 2011
A 16-year-old girl was referred for episodes of sub-jective feeling of ‘‘lack of air’’ mainly recurring duringhandling or stress and diagnosed as panic attacks.Neurological examination revealed prominent chin,ogival palate, dysphonia, dysmetria, general hypoto-nia, severe ataxic gaitb and mild mental retardation.
FABBRI, MARGHERITA, Vetrugno R, PROVINI, FEDERICA, Bosi M, SANTUCCI, MARGHERITA   +4 more
openaire   +3 more sources