Results 81 to 90 of about 21,399,247 (215)
A frontal lobe mass in a 6‐year‐old girl
Brain Pathology, EarlyView.
Francesca S. Vacca +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.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 +11 more
wiley +1 more source
Chiari zero malformation with syringobulbia
, 2023 Chiari zero malformation is a relatively new and rare subtype of Chiari malformations. Most of the patients present with signs and symptoms of Chiari malformation without actual cerebellar tissue herniation, with or without syringomyelia.
Zaid Mahameed, MD +4 more
core +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, Volume 200, Issue 10, Page 2396-2404, October 2026.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
Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 4, Page 518-526, October 2026.ABSTRACT ObjectiveTo characterize prenatal ultrasound findings in fetuses with prenatally diagnosed closed spinal dysraphism (CSD) and report their postnatal management and functional outcomes at 18 and 36 months. MethodsThis retrospective cohort study included all fetuses with a prenatal diagnosis of CSD assessed between January 2014 and December 2024
Y. Athiel +15 more
wiley +1 more source
Эпилепсия и пароксизмальные состояния, 2016 The traumatic brain injury (TBI), hypoxia, structural brain abnormalities are important causative factors for development of epilepsy. Posttraumatic epilepsy (PTE) is estimated to constitute 5% of all cases of epilepsy and over 20% of cases of ...
M. R. Yarmukhametova
doaj
Visual, vestibular, and ocular motor changes during nitroglycerin‐triggered vestibular migraine
Headache: The Journal of Head and Face Pain, Volume 66, Issue 9, Page 1991-2005, October 2026.Plain Language Summary Vestibular migraine (VM) is a common cause of intermittent dizziness, but there have been no studies with provoked (induced) VM used to characterize how the vestibular and ocular (vision) systems interact. We injected 20 patients with VM with nitroglycerin to provoke an attack and used a specialized camera to record their eye ...
Maria Dolores Villar‐Martinez +4 more
wiley +1 more source
, 2006 As holoprosencephaly and Chiari II malformation differ considerably, both in pathogenesis and in phenotypic localization, the coincidence of both entities is extremely rare. The case presented is, to our knowledge, the first published report comprising a
Meyermann, Richard +11 more
core +1 more source
Pseudotumor Cerebri and Chiari I Malformation
, 2003 PTC and Chiari I malformation are two conditions that may present in a similar fashion with headaches, papilledema, and normal-sized ventricles. They both tend to occur in females between the 2nd and 3rd decades of life.
Rudrani Banik, MD; Doris Lin, MD; Neil R. Miller, MD
core
[Arnold-Chiari I malformation: three unusual manifestations].
, 2005 BACKGROUND Arnold-Chiari Syndrome I is a malformation of the cervicomedullary junction, manifesting usually with downbeat nystagmus, palsy of the caudal cerebral nerves, headache, and vertigo. PATIENTS AND METHODS We present three patients with unusual
Mojon D, Pellanda N
core +1 more source