Results 31 to 40 of about 2,776 (190)
Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India. [PDF]
Clin Case RepABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Bhanushali A +6 more
europepmc +2 more sources
Neurofibromas in
Clinical Genetics, 2022 Contains fulltext : 252012.pdf (Publisher’s version ) (Open Access)
Justus L. Groen +8 more
openaire +3 more sources
Orphanet Journal of Rare Diseases, 2021 Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal +5 more
doaj +1 more source
Polyradiculopathies from Schwannomatosis [PDF]
The Open Neuroimaging Journal, 2011 We describe a case of schwannomatosis presenting as radicular pain and numbness in multiple radicular nerve distributions. There were multiple peripheral nerve tumors detected by magnetic resonance imaging (MRI) at the left vestibular nerve, cauda equina, right radial nerve, thoracic paraspinal nerve, and brachial plexi.
Jia, Yuxia +4 more
openaire +2 more sources
Medisan, 2013 Se describe el caso clínico de un paciente de 34 años de edad, quien presentaba múltiples schwannomas en el tercer ramo de bifurcación de la rama interna del nervio musculocutáneo, así como en los nervios colateral dorsal externo e interno del segundo y ...
Luis Enrique Montoya Cardero +4 more
doaj +1 more source
A rare case of schwannomatosis of the extremities [PDF]
Journal of International Medical Research, 2020 A schwannoma is a benign tumor that arises from the myelin-producing Schwann cells that surround nerves. We herein report a case involving a 55-year-old man who first presented to our clinic with a schwannoma of the posterior tibial nerve and 5 years later with a schwannoma of the ulnar nerve.
Lucian Fodor +2 more
openaire +3 more sources
Recurrent Schwannomatosis of the Hand
HAND, 2020 Background: Peripheral nerve sheath tumors (PNSTs) are neoplastic soft tissue masses generated from the abnormal proliferation of Schwann cells. Often, these tumors occur in isolation and are known as schwannomas or neurilemmomas. The presence of multiple schwannomas is known as schwannomatosis.
Razvan Nicolescu +3 more
openaire +3 more sources
Creation of an international registry to support discovery in schwannomatosis [PDF]
, 2016 Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005.
Ostrow, K L +19 more
core +1 more source
The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj
Schwannoma of the external auditory canal as a part of schwannomatosis
Acta Oto-Laryngologica Case Reports, 2019 We experienced a very rare case, which we believe to be sporadic schwannomatosis, in which a 49-year-old female patient presented with conductive hearing loss due to a subcutaneous tumor in the right external auditory canal and the symptoms were ...
Saeko Matsuzaki +3 more
doaj +1 more source