Results 21 to 30 of about 9,217 (184)

Alteraciones del sueño, un síndrome olvidado en los pacientes con malformación de Chiari tipo I

Neurología, 2014
Resumen: Introducción: La malformación de Chiari tipo I (MC-I) se caracteriza por la existencia de una ectopia de las amígdalas del cerebelo que se sitúan por debajo del foramen mágnum, lo que puede asociarse a fenómenos compresivos del tronco del ...
A. Ferré Masó, M.A. Poca, M.D. de la Calzada, E. Solana, O. Romero Tomás, J. Sahuquillo   +5 more
doaj   +1 more source

Selected Problems of the Patient after the Peak-occipital Decompression Surgery Treatment in the Course of the Chiari type I Malformation

Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2018
Introduction. The Chiari type I Malformation is a malformation of the hindbrain and skull. It refers to moving down the tonsils of the cerebellum through a large opening to the upper part of the spinal canal. Case Report.
Beata Haor, Robert Ślusarz, Agnieszka Królikowska, Renata Jabłońska, Mariola Głowacka, Anita Królikowska   +5 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Delayed presentation in chiari malformation

Asian Journal of Neurosurgery, 2021
Introduction: Chiari malformations are a group of clinicopathological entities with a variety of clinical presentations, different pathophysiology, and variable outcomes. It has a typical set of clinical presentation. In this study is to observe the different clinical presentations of the patients with Chiari malformation in our population ...
Rafay, Muhammad, Gulzar, Farhan, Jafri, Hassan Masood, Sharif, Salman   +3 more
openaire   +3 more sources

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Unusual case of persistent primitive hypoglossal artery with anterior choroidal artery aneurysm in Chiari type I malformation

Indian Journal of Radiology and Imaging, 2020
Persistent primitive hypoglossal artery (PPHA) is a rare form of persistent embryonic carotid-basilar anastomosis. We present an unusual case of PPHA and an anterior choroidal artery (AChoA) aneurysm associated with Chiari type I malformation.
Shinya Haryu, Naoki Shida, Teiji Tominaga   +2 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Surgical Outcome after Posterior Fossa Decompression with and without Duraplasty in Adult Chiari Malformation Type-I

Egyptian Spine Journal, 2016
Background Data: Adult Chiari malformation is a heterogeneous group of conditions, with the underlying commonality of disruption of normal CSF flow through the foramen magnum. Some cases are congenital, but others are acquired.
Tariq Awad, Mohamed Elqazaz
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source