Results 61 to 70 of about 24,909 (251)

Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report

Revista Brasileira de Cirurgia Plástica, 2010
INTRODUÇÃO: A síndrome de Ehlers-Danlos é um distúrbio raro, caracterizado por anormalidades diversas na estrutura, síntese e secreção do colágeno, resultando em um quadro clínico variado, com alterações cutâneas, articulares e vasculares.
Márcio Rocha Crisóstomo, Victor José Timbó Gondim, André Nunes Benevides, Mara Rocha Crisóstomo, Salustiano Gomes de Pinho Pessoa   +4 more
doaj   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Management of shoulder instability in hypermobility-type Ehlers-Danlos syndrome

JSES Reviews, Reports, and Techniques, 2021
Shoulder instability in hypermobile Ehlers-Danlos syndrome can result in lifelong pain and functional disability. Treatment in this population is complicated by the severe degree of instability as well as the underlying abnormalities of the joint ...
Samuel E. Broida, BS, Aidan P. Sweeney, MS, Michael B. Gottschalk, MD, Eric R. Wagner, MD, MS   +3 more
doaj   +1 more source

Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome. [PDF]

, 2018
Objective: Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility.
Child, A, Hayat, JO, Inayet, N, Kaul, A, Poullis, A, Tome, M   +5 more
core   +1 more source

Epilepsy in Ehlers‐Danlos Syndrome [PDF]

Epilepsia, 1999
Summary: Purpose: Ehlers‐Danlos syndrome (EDS) is a complex hereditary connective tissue disorder infrequently reported in association with epilepsy. Seven patients with ages ranging from 28 to 70 years with EDS and epilepsy are described. Methods: Case review of clinical and diagnostic data.
openaire   +2 more sources

The Ehlers–Danlos syndromes, rare types [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis ...
Brady, Angela F, Demirdas, Serwet, Fournel-Gigleux, Sylvie, Ghali, Neeti, Giunta, Cecilia, Kapferer-Seebacher, Ines, Kosho, Tomoki, Mendoza-Londono, Roberto, Pope, Michael F, Rohrbach, Marianne, Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Zschocke, Johannes, Malfait, Fransiska   +15 more
openaire   +4 more sources

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

Surgical and medical treatment of ocular disease in a dog with Ehlers–Danlos syndrome

Clinical Case Reports, 2017
Key Clinical Message Correctional surgery was performed on a 3‐year‐old intact male shih tzu presenting with Ehlers–Danlos syndrome, ocular disease, and skin fold dermatitis.
Søren N. Rasch
doaj   +1 more source

Late conversion after endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques, 2019
Vascular Ehlers-Danlos syndrome is associated with life-threatening events. The management of the disease is challenging because of the emergency presentation of symptoms and the tissue friability of the aorta.
Georgios Karaolanis, MD, MSc, PhD, Özgun Sensebat, MD, Giovanni Torsello, MD, Theodosios Bisdas, MD, Konstantinos P. Donas, MD   +4 more
doaj   +1 more source