Results 81 to 90 of about 1,071,521 (287)

A rare case of spinal dural arteriovenous fistula

Neurology International, 2012
Spinal dural arteriovenous fistula (SDAVF) is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature.
Mariya Apostolova, Samer Nasser, Samir Kodsi   +2 more
doaj   +1 more source

Capillary malformation/arteriovenous malformation

, 2020
Vascular anomalies are a heterogeneous group of disor- ders divided into tumors and malformations based on clinical, radiologic, and immunohistochemical studies.
Boon, Laurence M., Revencu, Nicole, Vikkula, Miikka, Laurence M. Boon, Nicole Revencu, Miikka Vikkula   +5 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Identifying Genetic Mutations in Vascular Anomalies Using a Sequencing Panel for Childhood Cancers: A Pilot Study

Journal of Vascular Anomalies
Introduction:. Genetic mutations have been identified in the pathogenesis of vascular anomalies. Due to overlaps in genetic variants causing vascular anomalies and cancer, we used a next-generation sequencing panel for genomic profiling of childhood ...
Elis Yuexian Lee, Yi Shan Ang, Chik Hong Kuick, Yingting Mok, Kenneth Tou En Chang, Luke Han Wei Toh, Mei Yoke Chan, Mark Jean Aan Koh   +7 more
doaj   +1 more source

Craniocervical junction spinal dural arteriovenous fistula presenting with progressive myelopathy and sudden deterioration

Formosan Journal of Surgery, 2017
Spinal dura arteriovenous fistula (SDAVF) is not an uncommon vascular malformation but is rare at craniocervical junction. The initial presentation is usually subarachnoid hemorrhage or cervical myelopathy caused by venous hypertension of the drainage ...
I-Cheng Lin, Hsiu-Ching Wu, Chieh-Hsin Wu, Wei-Chen Lin, Ann-Shung Lieu   +4 more
doaj   +1 more source

Spinal Arteriovenous Malformation Associated With Schimmelpenning Syndrome: Case Report

, 2013
The authors report the presentation and management of a 13-year-old girl with Schimmelpenning syndrome, a rare neurocutaneous syndrome; this patient suffered hemorrhage of a spinal arteriovenous malformation.
Bristol, Ruth, Sean D. Lavine, Albuquerque, Felipe C., Felipe C. Albuquerque, Lavine, Sean D., Ruth Bristol, Crowley, R. Webster, Ducruet, Andrew F., Kaith K. Almefty, Almefty, Kaith K., R. Webster Crowley, Andrew F. Ducruet   +11 more
core   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Intracranial subarachnoid hemorrhage as part of spinal arteriovenous metameric syndrome

Radiology Case Reports
Spinal Arteriovenous Metameric Syndrome is a rare and complex nonhereditary genetic vascular disorder, affecting multiple layers of tissues at the same metamere, including the spinal cord.
Jorge Murilo Barbosa De Sousa, MSc, MD, Gleyson Moraes Rios, MD, José Roberto Falco Fonseca, PhD, MD, João de Deus da Costa Alves, PhD, MD   +3 more
doaj   +1 more source

Misdiagnosed localized arteriovenous malformation

, 1987
We report a case of an 11-year-old girl with a pulsatile mass in the thigh diagnosed by angiography as a localized arteriovenous malformation. Recent increase in tenderness and size of the lesion brought the patient to hospital and excision was performed
Lo, CM, K. F. Siu, C. M. Lo, Yeung, HY, Siu, KF, H. Y. Yeung   +5 more
core   +1 more source

Spontaneous spinal epidural haematoma due to arteriovenous malformation in a child [PDF]

, 2011
Spontaneous spinal epidural haematoma (SSEH) is a rare clinical entity, especially in infants, in whom only a few cases have been reported. In a paediatric emergency setting, SSEH should be considered as part of the differential diagnosis for acute ...
A. J. Cabral, Vasconcelos, R., C. Aveiro, Cabral, A. J., Barros, A., Aveiro, C., A. Barros, R. Vasconcelos   +7 more
core   +1 more source