Results 41 to 50 of about 5,733 (168)

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, Rajesh Jinka, T S Kumar, Basheer Ahmed Khan, Keyur Mevada   +4 more
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Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings [PDF]

Journal of Clinical and Diagnostic Research, 2023
Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic ...
Sushant Kumar, Ashok Bhat
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Interruption Regions in the White Line: A Novel Panoramic Finding in the Risk Assessment of Mandibular Canal Exposure by Third Molar [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Panoramic markers are the indicators which can be demonstrated in panoramic radiograph to aid in dental diagnosis. Several panoramic markers were developed as diagnostic approach to predict Mandibular Canal (MC) exposure by Impacted ...
Azizah Ahmad Fauzi, Abd Jabar Nazimi, Muhd FazlyNIZAM Rashdi, Norshuhailinirwani Fouzi, Nor Asyikin Kamarudin, Roszalina Ramli   +5 more
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Joubert Syndrome: A Case Report

Nepal Journal of Neuroscience, 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.
Prakash Kafle , Sushil Krishna Shilpakar, Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari   +5 more
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Autotransplantation of mature impacted tooth to a fresh molar socket using a 3D replica and guided bone regeneration: two years retrospective case series

BMC Oral Health, 2019
Background The aim of this study was to evaluate the clinical outcome of autotransplantation of mature third molars to fresh molar extraction sockets using 3D replicas. Methods Ten patients underwent teeth autotransplantation with or without GBR.
Ye Wu, Jiaming Chen, Fuping Xie, Huanhuan Liu, Gang Niu, Lin Zhou   +5 more
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Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

Open Life Sciences, 2023
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient.
Wang Huiping, Nie Wensha, Wang Chunxia, Wang Zuohua, Zheng Yuxia   +4 more
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Clinical and genetic characteristics of 36 children with Joubert syndrome

Frontiers in Pediatrics, 2023
Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Yan Dong, Yan Dong, Ke Zhang, Ke Zhang, He Yao, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi   +12 more
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Joubert syndrome: a case report

Bulletin of Faculty of Physical Therapy, 2021
Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam, Fatema Khatoon, Nazim Khan   +2 more
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Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil , Shruthi Acharya , Chandni Proothi , Pratichi Tripathi , Aditi Tamrakar, Ravindranath Vineetha   +5 more
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Mandibuler üçüncü molar dişte idiyopatik kök rezorpsiyonu: vaka raporu

Cumhuriyet Dental Journal, 2011
Idiopathic resorption is rare form of external resorption, usually with no sign and was generally diagnosed as a chance finding during radiographic examination.
Fahrettin Goze, Fatih Ozan, H Kosger, İsa Kara   +3 more
doaj   +3 more sources