Results 261 to 270 of about 2,206,324 (288)

[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
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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
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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
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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
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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
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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
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Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics

Journal of Pediatric Neurology online, 2022
Joubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with ...
C. Cuppari, A. Salpietro, R. Chimenz, L. Colavita, M. Ceravolo, E. Gitto, A. Sallemi, M. Fusco, I. Ceravolo, G. Farello, G. Iapadre, C. Rocca, Ainara Salazar, Alessio Mancuso   +13 more
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Normal Cognitive Functions in Joubert Syndrome

Neuropediatrics, 2009
Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance ...
Andrea Poretti, F. Dietrich Alber, Francesco Brancati, Francesco Brancati, Enza Maria Valente, Enza Maria Valente, Eugen Boltshauser, Bruno Dallapiccola, Bruno Dallapiccola   +8 more
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Joubert Syndrome: Are Kidneys Involved?

Neuropediatrics, 1995
Renal involvement was checked in our series of 12 children with Joubert syndrome (JS) who fulfil the cardinal diagnostic features. No patient had clinical evidence of congenital retinal dystrophy. One child had normal kidneys at autopsy and 11 children (aged 1 month to 15 years) had no evidence of cystic kidney changes on ultrasonography.
U. Willi, Thierry Deonna, Eugen Boltshauser, I. Forster   +3 more
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Ophthalmic Features of Joubert Syndrome

Ophthalmology, 2008
Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. Diagnosis is based on characteristic clinical features (e.g., hypotonia, episodic hyperpnea, developmental delay, progressive ataxia) and is confirmed by distinctive neuroradiologic findings (e.g ...
Abdulmajeed AlDrees, Ibrahim A. Alorainy, Salah A. Elmalik, Darren T. Oystreck, Arif O. Khan, Mustafa A. Salih, Mohamed Z. Seidahmed   +6 more
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