Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Gomez Lopez Hernandez syndrome"'
Autor:
Frances Tiffany Cava Morden, Bao Xin Liang, Linda Nguyen, Enrique Carrazana, Arash Ghaffari-Rafi, Kore Kai Liow
Publikováno v:
Epilepsy & Behavior Reports, Vol 27, Iss , Pp 100688- (2024)
Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is a neurocutaneous disorder typically presenting in childhood. GLHS is characterized by rhombencephalosynapsis (RES) and partial alopecia, with or without tr
Externí odkaz:
https://doaj.org/article/7dec3d23b7f14bd5aa8708bac1dc7628
Akademický článek
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Publikováno v:
BMJ case reports. 14(10)
A 14-year-old female presented with progressive diminution of vision in the right eye. She had left-sided loss of vision since 1 year of age. The patient had aggressive behaviour with irrelevant talking. She was intellectually disabled and had a hist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ace0d2f7a8da7b6a04aba638222b4f2
https://pubmed.ncbi.nlm.nih.gov/34667053
https://pubmed.ncbi.nlm.nih.gov/34667053
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 25:373-375
We present a case of Gomez-Lopez-Hernandez syndrome (GLHS), a rare neurocutaneous syndrome, in a 10-month-old girl with neurotrophic keratopathy secondary to trigeminal anesthesia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08147d316dadbe5f58d7a48d5e201d7b
https://doi.org/10.1016/j.jaapos.2021.08.299
https://doi.org/10.1016/j.jaapos.2021.08.299
Autor:
Rafael Maffei Loureiro, Marcela Amaral Avelino Jacobina, Vânia D'Almeida, Carla Graziadio, Luiza do Amaral Virmond, José Luiz Pedroso, Michele Migliavacca, Nara Sobreira, Ana Beatriz Alvarez Perez, Eduardo Perrone, Claudia Berlim de Mello, Israel Gomy, Elaine Lustosa Mendes, Stênio Burlin
Publikováno v:
American Journal of Medical Genetics Part A. 185:1047-1058
We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Singl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9540b78853bcaa230caf4f7c6f823a5
https://doi.org/10.1002/ajmg.a.62059
https://doi.org/10.1002/ajmg.a.62059
Autor:
Giuseppe Micali, Ignacio Pascual-Castroviejo, Stefano Catanzaro, Concetta Pirrone, Federica Sullo, Andrea D. Praticò, Antonio Zanghì, Agata Polizzi, Martino Ruggieri, Carmelo Schepis, Agata Fiumara, Selene Mantegna, Filippo Greco, Francesco Lacarrubba, Pierluigi Smilari
Publikováno v:
Journal of Pediatric Neurology. 16:362-368
Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e295ed6d0d800d897fec21a3ad897ac9
https://doi.org/10.1055/s-0038-1667021
https://doi.org/10.1055/s-0038-1667021
Autor:
Cornelius Kronlage, Daniel G. Healy
Publikováno v:
Neurology. 93:408-410
A 38-year-old man with a diagnosis of cerebral palsy had MRI for headache. This showed hydrocephalus with aqueductal stenosis and a hypoplastic cerebellum (figure 1). On detailed examination, bilateral triangular patches of alopecia (figure 2) stood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a503dcd5db95aacd815950a69b4c9434
https://doi.org/10.1212/wnl.0000000000008004
https://doi.org/10.1212/wnl.0000000000008004
Autor:
Stênio Burlin, Ana Beatriz Alvarez Perez, Marcela Amaral Avelino Jacobina, José Luiz Pedroso, Eduardo Perrone, Vânia D'Almeida, Nara Sobreira, Orlando Graziani Povoas Barsottini, Victor Rebelo Procaci
Publikováno v:
Neurology. 96:e1593-e1594
A 42-year-old woman presented with ataxia and numbness in her face since childhood. Her parents were nonconsanguineous. Examination showed ataxia, alopecia, absent corneal reflex, and hypoesthesia in right trigeminal territory (figure 1). Brain MRI d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd594638294153a4b56d539be3294919
https://doi.org/10.1212/wnl.0000000000011158
https://doi.org/10.1212/wnl.0000000000011158