Results 11 to 20 of about 2,477,262 (230)

Visual function in children with Joubert syndrome

Developmental Medicine & Child Neurology, 2023
To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.
F. Morelli, Federico Toni, Elena Saligari, F. D’Abrusco, Valentina Serpieri, E. Ballante, G. Ruberto, R. Borgatti, E. Valente, S. Signorini   +9 more
semanticscholar   +2 more sources

Joubert syndrome: A classic case

Journal of Family Medicine and Primary Care, 2019
Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia ...
Puneeth Kumar, Amit Dey, Kartik Mittal, Rajaram Sharma, Anmol Goyal, Priya Hira   +5 more
doaj   +2 more sources

An infant with Joubert syndrome: A case report

Radiology Case Reports, 2023
Joubert syndrome is a rare neurological and developmental malfunction represented by decreased muscle tone, ataxia, and delayed developmental milestones.
Shehroze Tabassum, MBBS, Aroma Naeem, MBBS, Rana Uzair Ahmad, MBBS, Farhan Naeem, MBBS, Faiza Afzal, MBBS   +4 more
doaj   +2 more sources

Anaesthetic Management of Cataract Surgery in Patient with Joubert Syndrome

GAIMS Journal of Medical Sciences, 2022
Joubert syndrome is a rare autosomal recessive disorder of the cerebellum that occurs In 1 of 100000 live births. The syndrome is characterized by malformations of the cerebellum and brainstem, hypotonia, developmental delay, hypertonia or apnea attacks ...
Jaldeep Patel, Mandakinee Thacker, Rutva Patel, Harvi Ardeshana   +3 more
doaj   +3 more sources

Adult-onset bulbar ptosis in Joubert syndrome

Clinical Ophthalmology, 2012
Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Burt B, Levine J, Le K
doaj   +2 more sources

Aberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders. [PDF]

J Biol Chem
CEP290 gene mutations are linked to Joubert syndrome-related disorders (JSRD) which present with various symptoms, including brain malformation, retinal degeneration, and kidney disorders.
Uuganbayar U, Ninomiya H, Shimada IS, Yamada C, Kanie M, Kawai S, Asai T, Miyoshi-Akiyama T, Itoh M, Hashimoto Y, Kato Y.   +10 more
europepmc   +2 more sources

Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review. [PDF]

Cureus
Joubert syndrome and related disorders (JSRD) present diagnostic challenges due to their varied clinical features. Neuroimaging, particularly MRI and CT, is critical for identifying the distinctive "molar tooth sign" and other neuroanatomical ...
Alhashimi I, Zoghoul S, Khalil SK, Yousif ZB, Jumah A, Alkailani Y.   +5 more
europepmc   +2 more sources

Joubert Syndrome, A Ciliopathy

Pediatric Neurology Briefs, 2013
Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
doaj   +2 more sources

A case report of Joubert syndrome with renal involvement and seizures in a neonate

Radiology Case Reports, 2021
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc   +9 more
doaj   +2 more sources

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Brain Communications, 2021
Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark ...
Laura Powell, Eric Olinger, Jill Clayton-Smith   +2 more
exaly   +2 more sources