Results 111 to 120 of about 2,477,262 (230)
Joubert Syndrome in Three Children in A Family: A Case Series
, 2013 How to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1); 39-42. Joubert syndrome (JS) is a rare
MOHAMMADPOOR, Toktam +5 more
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Periodic Alternating Nystagmus Associated with Joubert Syndrome
, 2018 Joubert syndrome is a rare autosomal recessive genetic disorder characterized by ataxia, hypotonia, development delay, and \u27molar tooth sign\u27 on a MRI scan. Since it affects the brainstem and cerebellar vermis, various oculomotor abnormalities have
Hak-Seung Lee; Jae-Hwan Choi; Eun Hye Oh; Jae-Ho Jung; Seo Young Choi; Kwang-Dong Choi; Min-Ji Kim; Sang-Ho Kim
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Neuroleptic Malignant Syndrome Due to Risperidone Treatment in a Child With Joubert Syndrome
, 2009 Joubert syndrome is a rare autosomal recessive disease characterized by hypotonia, ataxia, episodic hyperpnea, psychomotor retardation, abnormal ocular movements, cerebellar vermian hypoplasia, and molar tooth sign on magnetic resonance imaging ...
Akin, Ridvan +9 more
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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Case Reports in Pediatrics, 2015 We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev +4 more
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Joubert syndrome with cleft palate
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014 Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as
Annavarapu Gopalakrishna +4 more
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Joubert Syndrome: A Case Report
, 2018 Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Mohan Raj Sharma +5 more
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Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
Case Reports in Pediatrics, 2011 We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill +4 more
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Ophthalmologic Findings In Joubert Syndrome
, 2009 Joubert syndrome (JS) is a sporadic or autosomal-recessive inherited complex malformation of the hindbrain.
Veit Sturm; Hana Leiba; Marcel Menke; Eugen Boltshauser; Klara Landau
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OPTIC DISC DRUSEN MIMICKING PAPILLEDEMA IN AN INFANT WITH JOUBERT SYNDROME
, 2015 Optic disc drusen mimicking papilledema in an infant with Joubert syndrome: Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis.
Gokben, S. +5 more
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