Results 11 to 20 of about 1,250,329 (187)
Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report
Clinical Case Reports, 2023 Pediatric tracheostomy in COVID‐19 patients is a rarity. Joubert syndrome is a rare genetic disease, involving a lack of muscle control. We report the case of a child with Joubert syndrome and a severe form of COVID‐19 infection, in whom we performed ...
Veronica Epure +2 more
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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 +4 more
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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 +5 more
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Adult-onset bulbar ptosis in Joubert syndrome [PDF]
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
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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
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Anaesthetic Management of Cataract Surgery in Patient with Joubert Syndrome [PDF]
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 +3 more
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Neurocognitive Functions and Behavior in Joubert Syndrome [PDF]
Pediatric Neurology Briefs, 2016 Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
Andrea Poretti, Gwendolyn J. Gerner
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Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report [PDF]
BMC Pregnancy and ChildbirthBackground Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can ...
Si-Xiu Li +8 more
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Joubert-Plus syndrome with an atretic cephalocele: a case report
Radiology Case Reports, 2022 Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign.
Ali Al-Smair, MD +4 more
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Major depressive disorder mimicking mental retardation: A rare case of Joubert syndrome (eng)
Klinik Psikiyatri Dergisi, 2022 Joubert Syndrome is a rare genetic and clinical disorder that affects many different parts of the body, especially the central nervous system, musculoskeletal system, kidneys, eyes, respiratory system, endocrine system and liver. In addition to all these
Nazlı Ece Karzan, Damla Eyüboğlu
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