Development of a child with Joubert syndrome. [PDF]
The Spanish Journal of Psychology, 2001 Sin ...
Buceta, M. José +2 more
core +7 more sources
Joubert Syndrome and related disorders [PDF]
Orphanet Journal of Rare Diseases, 2010 Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain ...
Brancati Francesco +2 more
doaj +14 more sources
Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism [PDF]
Frontiers in PediatricsJoubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei +4 more
doaj +5 more sources
Adult-onset bulbar ptosis in Joubert syndrome [PDF]
Clinical Ophthalmology, 2012 Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Burt B, Levine J, Le K
doaj +4 more sources
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling [PDF]
Cell Reports, 2019 Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood.
Kari-Anne M. Frikstad +15 more
doaj +3 more sources
Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report [PDF]
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 +2 more
doaj +2 more sources
Chronic vomiting revealing Joubert syndrome: A case report [PDF]
Radiology Case ReportsJoubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar +7 more
doaj +2 more sources
Healthcare recommendations for Joubert syndrome [PDF]
American Journal of Medical Genetics Part A, 2020 Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign".
Bachmann-Gagescu, Ruxandra +23 more
core +6 more sources
An infant with Joubert syndrome: A case report [PDF]
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 +4 more
doaj +2 more sources
Anaesthetic Management of Cataract Surgery in Patient with Joubert Syndrome [PDF]
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 +3 more sources