Results 191 to 200 of about 2,477,262 (230)

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 ...
W C, Shen, W J, Shian, C C, Chen, C S, Chi, S K, Lee, K R, Lee   +5 more
openaire   +2 more sources

Mortality in Joubert syndrome

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, Phelps, Ian G, Bachmann-Gagescu, Ruxandra, Glass, Ian A, Tully, Hannah M, Doherty, Dan   +5 more
openaire   +2 more sources

Neuropathology of Joubert Syndrome

Journal of Child Neurology, 1999
Very 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 ...
A T, Yachnis, L B, Rorke
openaire   +2 more sources

Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome.

Ophthalmic Plastic and Reconstructive Surgery, 2023
Congenital 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, Talissa Feltrini, F. Chahud, Katharina Messias   +3 more
semanticscholar   +1 more source

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology

Annals of Human Genetics, 2023
Introduction: Joubert syndrome (JS) arises from defects of primary cilia resulting in potential malformations of the brain, kidneys, eyes, liver, and limbs.
Joshua W. Owens, R. J. Hopkin, L. Martin, Andrew Kodani, Brittany N. Simpson   +4 more
semanticscholar   +1 more source

Joubert syndrome: Molecular basis and treatment

Journal of mother and child, 2022
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are ...
L. Spahiu, E. Behluli, Violeta Grajçevci-Uka, T. Liehr, G. Temaj   +4 more
semanticscholar   +1 more source

Beyond the Molar Tooth: A Review of Imaging Findings in Joubert Syndrome and Related Disorders

Neurographics
Joubert syndrome and related disorders encompass a group of ciliopathies that present with variable neurologic and systemic phenotypes. The diagnosis of Joubert syndrome and related disorders is based on a combination of clinical features and imaging ...
S. Gurbani, T. Assaye, T.X. D’souza, J. Dennison, S. Palasis, M. Bajaj   +5 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

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, Z. Cao, Zhe Yin, Huafang Gao, Bin Guo, Xu Ma, Muqing Cao, Minna Luo   +12 more
semanticscholar   +1 more source

MR imaging of Joubert's syndrome

Computerized Medical Imaging and Graphics, 1995
Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs),
openaire   +2 more sources