Results 11 to 20 of about 6,310 (174)

Clinical and genetic characteristics of 36 children with Joubert syndrome. [PDF]

Front Pediatr, 2023
Dong Y, Zhang K, Yao H, Jia T, Wang J, Zhu D, Xu F, Cheng M, Zhao S, Shi X.   +9 more
europepmc   +4 more sources

Joubert syndrome

, 2010
Frank Gaillard
  +4 more sources

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, Aroma Naeem, MBBS, Rana Uzair Ahmad, MBBS, Farhan Naeem, MBBS, Faiza Afzal, MBBS   +4 more
doaj   +1 more source

Joubert syndrome

Nursing Children and Young People, 2017
Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
Doreen, Crawford, Annette, Dearmun
  +6 more sources

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

BMC Medical Genetics, 2020
Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old
Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma   +14 more
doaj   +1 more source

Analysis of CT and MRI Manifestations of Joubert Syndrome. [PDF]

J Belg Soc Radiol, 2023
Liao DW, Zheng X.
europepmc   +3 more sources

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, Doru Oprea, Dan Cristian Gheorghe   +2 more
doaj   +1 more source

Phenotypic manifestations of C5orf42 pathogenic variants [PDF]

Romanian Journal of Pediatrics, 2022
Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal ...
Elena-Silvia Shelby, Relu Cocos, Madalina Cristina Leanca, Andrada Mirea, Diana Barca   +4 more
doaj   +1 more source

Periventricular nodular heterotopias an atypical manifestation of Joubert syndrome

Nepal Journal of Neuroscience, 2021
Joubert syndrome (JS) is characterized by varying degrees of mid and hindbrain malformations. A thickened superior cerebellar peduncle (“molar tooth sign”), varying degree of cerebellar vermian clefting, and an oddly shaped (“bat-wing”) fourth ventricle ...
Himanshu Mishra, Amit Kumar
doaj   +1 more source

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
doaj   +1 more source