Zobrazeno 1 - 10
of 199
pro vyhledávání: '"vermis hypoplasia"'
Autor:
Abdulfatah M. Alayoubi, Fatima Alfadhli, Mehnaz, Alia M. Albalawi, Khushnooda Ramzan, Musharraf Jelani, Sulman Basit
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Cerebellar vermis hypoplasia refers to a varying degree of incomplete development of the cerebellum and vermis. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual impairment, skeleta
Externí odkaz:
https://doaj.org/article/41635e47419e4874a0ed27754b37dd64
Autor:
Jorge Ariel Montero Torres, MD, Bruno Flores Escobar, MD, Julian Guzman Martinez, MD, Ricardo Alfonso Barrera Martínez, MD, Frida Priscila Hernández Cortez, MD
Publikováno v:
Radiology Case Reports, Vol 19, Iss 10, Pp 4167-4172 (2024)
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinc
Externí odkaz:
https://doaj.org/article/4d231a808ea547a39ad7cd2d238bda40
Autor:
Chiara Minotti, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region
Externí odkaz:
https://doaj.org/article/144f7efe810743aeb4205d3431680495
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Qirat Qurban, MBBS, FCPS, MRCS, Zeeshan Kamil, MBBS, CRCP, MCPS, FCPS, FRCS, Sameer Saleem Tebha, MBBS, Zain Ali Zaidi, MBBS, Maahirah Said, Samar Fatima Zehra, MBBS, Sajjad Ali, MBBS, Sehrish Sethar, MBBS, FCPS
Publikováno v:
Radiology Case Reports, Vol 17, Iss 3, Pp 812-815 (2022)
We present a unique case of a ten-month-old boy with a protruding left globe and vitreous haemorrhaging, and later being diagnosed as a case of a dandy-walker syndrome (DWS) with buphthalmos and vitreous haemorrhage. Treatment is depending on the sym
Externí odkaz:
https://doaj.org/article/eb68256687ac4257a8a17fd8eb8d7048
Autor:
Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Publikováno v:
Journal of Movement Disorders, Vol 14, Iss 3, Pp 231-235 (2021)
Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS. Methods This was a retrosp
Externí odkaz:
https://doaj.org/article/86bb0f2e3377407bb6a1bf75fe4d85bb
Autor:
Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D’Arrigo, Paolo Cavallari
Publikováno v:
Brain Sciences, Vol 13, Iss 4, p 620 (2023)
We recently investigated the role of the cerebellum during development, reporting that children with genetic slow-progressive ataxia (SlowP) show worse postural control during quiet stance and gait initiation compared to healthy children (H). Instead
Externí odkaz:
https://doaj.org/article/3bfc9d5f32de4a1596737fb8649d104e
Autor:
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
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract 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
Externí odkaz:
https://doaj.org/article/13ea7f51bdcf4694a5fa6442f4efda43