Results 21 to 30 of about 5,944 (238)

Molar tooth sign: A characteristic image in Joubert syndrome

Neurología (English Edition), 2010
Hurtado, P., Pachajoa, H.
exaly   +3 more sources

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

BMC Pediatrics, 2023
Background Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign”, and variable organ involvement (such as eye, kidney, liver, and ...
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun   +7 more
doaj   +1 more source

Retrospective Analysis on Inferior Third Molar Position by Means of Orthopantomography or CBCT: Periapical Band-Like Radiolucent Sign

Applied Sciences, 2021
Background: Orthopantomography (OPG) is usually used as a primary diagnostic radiological exam in the planning of third molar surgery because it is deeply available in dental clinics and has lower radiation doses compared to Cone-beam computed tomography
Young-Sam Kim, Young-Min Park, Saverio Cosola, Abanob Riad, Enrica Giammarinaro, Ugo Covani, Simone Marconcini   +6 more
doaj   +1 more source

A case of Joubert syndrome caused by novel compound heterozygous variants in the gene

Journal of International Medical Research, 2023
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging.
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky   +9 more
doaj   +1 more source

Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome [PDF]

International Journal of Anatomy Radiology and Surgery, 2017
Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically.
Preetam B Patil, Santosh K Dasar, Shamsundar K Joshi, Anithraj Y Bhat   +3 more
doaj   +1 more source

Rare case of a floppy neonate: Joubert syndrome

Current Medicine Research and Practice, 2021
Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures.
Kumar Ankur, Aparna Prasad, Sanjeev Chetry, Rajni Farmania, Sachin Jain   +4 more
doaj   +1 more source

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   +1 more source

Genetic Varieties of Jouberts Syndrome

Pediatric Neurology Briefs, 2005
Four families with linkage to two loci for Jouberts syndrome (JS), JBTS1 or JBTS2, and clinical and radiographic correlations for 4 known genetic causes of JS-related disorders (JSRD) are described in a report from University of California-San Diego, La ...
J Gordon Millichap
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source