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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
doaj +3 more sources
TOPORS as a novel causal gene for Joubert syndrome. [PDF]
Am J Med Genet A, 2023 Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign.
Strong A +7 more
europepmc +2 more sources
Clinical and genetic characteristics of 36 children with Joubert syndrome. [PDF]
Front Pediatr, 2023 Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Dong Y +9 more
europepmc +2 more sources
Analysis of CT and MRI Manifestations of Joubert Syndrome. [PDF]
J Belg Soc Radiol, 2023 Objective: To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS). Method: In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve ...
Liao DW, Zheng X.
europepmc +2 more sources
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report. [PDF]
Medicine (Baltimore), 2023 Introduction: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. Patient concerns:
Duque-Cordoba PA +3 more
europepmc +2 more sources
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 +5 more
doaj +4 more sources
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. [PDF]
J Int Med Res, 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.
Kozina AA +9 more
europepmc +2 more sources
Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders. [PDF]
Cureus, 2023 Joubert syndrome and related disorders (JSRD) are rare and intractable diseases characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal respiratory and eye movements.
Mano H +8 more
europepmc +2 more sources