Results 111 to 120 of about 20,451 (238)

Lingual Frenectomy in Joubert Syndrome

The Journal of Contemporary Dental Practice, 2017
ABSTRACTAimOur aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones.BackgroundCiliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases
Minal Gurjar, Vivek Gurjar, Banashree Sankeshwari, Channaveer Pattanshetti   +3 more
openaire   +2 more sources

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, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson   +4 more
doaj   +1 more source

“Mini Molar Tooth” Sign in POLR3B‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy

Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1659-1661, October 2025.
Luca Marsili, Marcelo A. Kauffman, Blanca Talavera de la Esperanza, Zheming Yu, Donald L. Gilbert, Alberto J. Espay   +5 more
wiley   +1 more source

MRI with fibre tracking in Cogan congenital oculomotor apraxia [PDF]

, 2018
Background: Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the ‘molar tooth sign' (MTS).
De Haller, Raoul, Fluss, Joel, Merlini, Laura, Rilliet, Bénédict, Vargas, Maria   +4 more
core  

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, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis   +4 more
doaj   +1 more source

Joubert Syndrome: Clinical Manifestations and Magnetic Resonance Imaging [PDF]

, 1994
Seung Cheol Kim, Woo Sun Kim, In One Kim, Kyung Mo Yeon, Jong Gi Song, Yong Kyu Yoon, Yong Seung Hwang   +6 more
openalex   +1 more source

Cerebellar Disorders in Childhood: Cognitive Problems [PDF]

, 2018
Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to ...
Steinlin, Maja
core  

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) [PDF]

, 2010
OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and ...
Al-Mateen, M., Bates, D., Chance, P. F., Clericuzio, C., Demir, H., Dobyns, W. B., Doherty, D., Dorschner, M., Finn, L. S., Gahl, W. A., Gentile, M., Glass, I. A., Gorden, N. T., Gunay-Aygun, M., Hikida, A., Knutzen, D., Ozyurek, H., Parisi, M. A., Phelps, I., Rosenthal, P., van Essen, A. J., Verloes, A., Weigand, H.   +22 more
core   +1 more source

Joubert syndrome: Report of a neonatal case [PDF]

, 2003
Mustafa Akçakuş, Tamer Güneş, Sefer Kumandaş, Selim Kurtoğlu, Abdulhakim Çoşkun   +4 more
openalex   +1 more source

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
doaj   +1 more source