Results 41 to 50 of about 2,206,162 (231)
Joubert syndrome: a case report of neonatal presentation and early diagnosis
Boletín Médico del Hospital Infantil de México, 2023 Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described.
Carla I. González-Gordillo +4 more
doaj +1 more source
Anaesthetic Management of Cataract Surgery in Patient with Joubert Syndrome
GAIMS Journal of Medical Sciences, 2022 Joubert syndrome is a rare autosomal recessive disorder of the cerebellum that occurs In 1 of 100000 live births. The syndrome is characterized by malformations of the cerebellum and brainstem, hypotonia, developmental delay, hypertonia or apnea attacks ...
Jaldeep Patel +3 more
doaj +1 more source
Frontiers in Genetics, 2022 Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing.
Lingling Huang +6 more
semanticscholar +1 more source
Joubert-Plus syndrome with an atretic cephalocele: a case report
Radiology Case Reports, 2022 Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign.
Ali Al-Smair, MD +4 more
doaj
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
Molecular Genetics & Genomic Medicine, 2022 Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. RNA splicing analysis is critical
Hongjun Fei +3 more
semanticscholar +1 more source
Ophthalmological findings in Joubert syndrome [PDF]
Eye, 2009 Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings.In a retrospective study, 10 consecutive patients, who met the revised diagnostic criteria of
Sturm V +6 more
openaire +6 more sources
BMC Medical Genetics, 2020 Background Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular ...
Thi Phuong Hoa Bui +6 more
doaj +1 more source
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Frontiers in Genetics, 2022 Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz +2 more
semanticscholar +1 more source
BMC Pediatrics, 2020 Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta +11 more
doaj +1 more source
New insights into CC2D2A-related Joubert syndrome
Journal of Medical Genetics, 2022 Purpose In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A.
Madeleine Harion +35 more
semanticscholar +1 more source