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Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk, Peter van Tintelen, Elke R Gizewski, Rebekka Groebner, Johannes Zschocke, Marjo S van der Knaap
Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers-Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers-Danlos syndrome were included in the present study and underwent general physical, dental, and neurological examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain...
December 8, 2018: Neurogenetics
Carolina Cevallos B, Emilio Vargas, Sergio González B, Montserrat Molgo
Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.
August 2018: Revista Médica de Chile
P Cheulot, M Saucedo, M H Bouvier-Colle, C Deneux Tharaux, G Kayem
OBJECTIVE: To describe maternal deaths in France associated with Marfan's syndrome or vascular Ehlers-Danlos syndrome. STUDY DESIGN: A retrospective descriptive study based on data from the national confidential enquiry into maternal deaths, in France, during 2001-2012. Characteristics of the patients, their pregnancies and details of their deaths were analysed. The specific maternal mortality ratio by Marfan's syndrome or vascular Ehlers-Danlos syndrome was estimated...
November 26, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
Anna S Stöberl, Thomas Gaisl, Cecilia Giunta, Noriane A Sievi, Florian Singer, Alexander Möller, Marianne Rohrbach, Malcolm Kohler
BACKGROUND: In Ehlers-Danlos syndrome (EDS), a group of monogenic disorders affecting connective tissues, obstructive sleep apnoea (OSA) is highly prevalent in adults. The prevalence of OSA in children with EDS is unknown. OBJECTIVES: This prospective cross-sectional study aimed at determining the prevalence of OSA in paediatric EDS patients. METHODS: Children with EDS (n = 24) were recruited from the Children's Hospital Zurich and matched to healthy controls...
November 28, 2018: Respiration; International Review of Thoracic Diseases
Meagan E Tibbo, Cody C Wyles, Matthew T Houdek, Benjamin K Wilke
BACKGROUND: Ehlers-Danlos syndromes (EDS) are connective tissue disorders that cause defects in collagen synthesis or processing, resulting in joint hypermobility. Following total knee arthroplasty (TKA), concern exists that hypermobility will affect the outcome as prosthesis relies on soft tissues for stability. The purpose of this study is to investigate the outcome of TKA in the setting of EDS compared to patients undergoing TKA for osteoarthritis (OA). METHODS: We identified 16 patients (20 knees) with EDS who underwent a TKA between 2001 and 2016...
September 27, 2018: Journal of Arthroplasty
Francesca Seregni, Saraswathy Sabanathan, Justin Cross, Manali Chitre, Deepa Krishnakumar
A previously well 15-year-old boy presented to the emergency department with sudden-onset severe back pain and inability to weight bear. Preceding this event, he stretched out in bed and felt a click in his back.On examination, he was alert and interactive with normal vital signs. Neurological examination of the lower limbs demonstrated bilateral hypotonia and reduced power to 2/5 proximally and distally, absent reflexes, sensory level at L2 with paraesthesia (pins and needles) and dysaesthesia bilaterally...
November 26, 2018: Archives of Disease in Childhood. Education and Practice Edition
Chayakrit Krittanawong, Anirudh Kumar, Kipp W Johnson, Yiming Luo, Bing Yue, Zhen Wang, Deepak L Bhatt
The pathophysiology of spontaneous coronary artery dissection (SCAD) is heterogeneous, associated with systemic arteriopathies and inflammatory diseases, and often compounded by environmental precipitants, genetics, or stressors. However, the frequency of these associated conditions with SCAD on a population level remains unknown. Therefore, the objective of this analysis was to evaluate heterogeneous phenotypes of SCAD in the United States using data from the Nationwide Inpatient Sample collected from January 1, 2004, to September 31, 2015...
October 30, 2018: American Journal of Cardiology
Anne Legrand, Magali Devriese, Sophie Dupuis-Girod, Christophe Simian, Annabelle Venisse, Jean Michael Mazzella, Karine Auribault, Salma Adham, Michael Frank, Juliette Albuisson, Xavier Jeunemaitre
PURPOSE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental mosaicism, but its frequency is unknown. METHODS: This retrospective study included a large series of COL3A1-confirmed vEDS probands with family information. The frequency of de novo cases was evaluated and the distribution of the type of variants was compared according to the mode of inheritance...
November 26, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Silvia Morlino, Chiara Dordoni, Isabella Sperduti, Carol J Clark, Caterina Piedimonte, Andrea Fontana, Marina Colombi, Paola Grammatico, Massimiliano Copetti, Marco Castori
The 2017 nosology defines the new criteria for hypermobile Ehlers-Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ-9) is one of the few available tools...
November 23, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Hiroko Ida-Yonemochi, Wataru Morita, Nobuo Sugiura, Ryosuke Kawakami, Yuki Morioka, Yuka Takeuchi, Toshiya Sato, Shunichi Shibata, Hideto Watanabe, Takeshi Imamura, Michihiro Igarashi, Hayato Ohshima, Kosei Takeuchi
Chondroitin sulfate (CS) proteoglycan is a major component of the extracellular matrix and plays an important part in organogenesis. To elucidate the roles of CS for craniofacial development, we analyzed the craniofacial morphology in CS N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice. T1KO mice showed the impaired intramembranous ossification in the skull, and the final skull shape of adult mice included a shorter face, higher and broader calvaria. Some of T1KO mice exhibited severe facial developmental defect, such as eye defects and cleft lip and palate, causing embryonic lethality...
November 20, 2018: Scientific Reports
Amr Wardeh, Tyson Jackson, Beverly Nelson, Carl Ernst, Jean-François Théroux, Walla Al-Hertani, Andrew K Sobering, Mary C Maj
A 1-year-old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers-Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state-of-the-art cardiac monitoring and appropriate symptomatic treatment for this rare disease.
November 2018: Clinical Case Reports
Benjamin Peterson, Andrea Coda, Verity Pacey, Fiona Hawke
Background: Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome are two common heritable genetic disorders of connective tissue. Both conditions are characterised by excessive joint range of motion and the presence of musculoskeletal symptoms, and are associated with joint instability, motion incoordination, decreased joint position sense, and musculoskeletal pain. Hypermobility Spectrum Disorder is the new classification for what was previously known as Joint Hypermobility Syndrome...
2018: Journal of Foot and Ankle Research
L Wozniak-Mielczarek, R Sabiniewicz, M Drezek-Nojowicz, R Nowak, N Gilis-Malinowska, M Mielczarek, A Łabuc, A Waldoch, J Wierzba
Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. The aim of the study was to compare cardiovascular manifestation of MFS between children and adults. The study population consisted of 236 patients (144 children and 92 adults), who were referred to our department with suspicion of MFS...
November 11, 2018: Pediatric Cardiology
Zhengyang Zhou, Abhitej Rewari, Harsha Shanthanna
RATIONALE: Ehlers-Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders involving defective collagen synthesis. Patients with EDS are prone for chronic myofascial pain, apart from other comorbidities. Although the initial pathology is commonly nociceptive, progression of EDS leads to neuropathies and central sensitization of pain signals. Overall, approximately 90% or more EDS patients suffer from chronic pain. There are no existing guidelines to manage chronic pain in EDS patients...
November 2018: Medicine (Baltimore)
Mark A Solinski, Michael P Blair, Harry Dietz, David Mittelman, Michael J Shapiro
BACKGROUND: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome. MATERIALS AND METHODS: Review of two cases. RESULTS: A 7-year old boy with history of LDS was found to have a vitreous hemorrhage in the right eye. Further examination showed findings of Familial Exudative Vitreoretinopathy (FEVR)...
December 2018: Ophthalmic Genetics
Alberto Sulli, Rosaria Talarico, Carlo Alberto Scirè, Tadej Avcin, Marco Castori, Alessandro Ferraris, Charissa Frank, Jürgen Grunert, Sabrina Paolino, Stefano Bombardieri, Matthias Schneider, Vanessa Smith, Maurizio Cutolo, Marta Mosca, Fransiska Malfait
Objective: To report the effort of the European Reference Network for Rare and Complex CONnective tissue and musculoskeletal diseases NETwork working group on Ehlers-Danlos syndromes (EDS) and related disorders to assess current available clinical practice guidelines (CPGs) specifically addressed to EDS, in order to identify potential clinician and patient unmet needs. Methods: Systematic literature search in PUBMED and EMBASE based on controlled terms (MeSH and Emtree) and keywords of the disease and publication type (CPGs)...
2018: RMD Open
Yoshiro Ito, Tetsu Satow, Hirofumi Matsubara, Hiroharu Kataoka, Jun C Takahashi
BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a vascular disease associated with a genetic collagen abnormality. It is characterized by vessel fragility, vessel rupture, and massive hemorrhage. Carotid-cavernous fistula (CCF) is the most frequent neurovascular complication of vEDS. However, CCF treatment using conventional diagnostic angiography and neuroendovascular therapy can result in a high rate of major complications. CASE DESCRIPTION: We report a case of a right CCF in a 48-year-old man with vEDS...
November 1, 2018: World Neurosurgery
Komal Preet, Methma Udawatta, Courtney Duong, Quinton Gopen, Isaac Yang
BACKGROUND: Superior semicircular canal dehiscence (SSCD) is a rare bony defect in the petrosal temporal bone, creating a new opening between the inner ear and middle cranial fossa. Ehlers-Danlos Syndrome (EDS) is an inherited connective tissue disorder characterized by a defect in collagen synthesis. EDS patients are more likely to have bony abnormalities, which may predispose them to developing SSCD. CASE DESCRIPTION: We report the cases of two female patients with histories of Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HT)...
October 29, 2018: World Neurosurgery
Zohya Khalique, Suzan Hatipoğlu, Ulrich Rosendahl, Raad Mohiaddin
A 24-year-old man with dilated aortic root and vascular type Ehlers-Danlos Syndrome underwent aortic root replacement with a stentless bioprosthesis. A year later he developed aortic valve endocarditis necessitating a redo valve replacement. Excised valve tissue grew fungus Purpureocillium lilacinum. Over a period of four years case was further complicated with mycotic aneurysm of the infra-renal aorta, a retroperitoneal abscess (treated surgically), a right common iliac aneurysm, right lower limb emboli (femoral embolectomy and left -to-right femoral bypass was performed), two false aneurysms of the ascending aorta with a large mobile mass attached to the anterior aneurysm and brain abscesses...
October 22, 2018: Annals of Thoracic Surgery
Michael Frank, Salma Adham, Franck Zinzindohoué, Xavier Jeunemaitre
BACKGROUND AND AIM: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder due to heterozygous mutations in the COL3A1 gene with a dominant negative effect. Spontaneous bowel perforation and intra-abdominal organ rupture are common complications of vEDS. Other gastrointestinal (GI) manifestations may occur but have not been extensively characterized. We herein describe the natural history of GI events and surgery related complications in patients with vEDS. METHODS: A retrospective review of GI events in a large cohort of molecularly proven vEDS patients was conducted, after exclusion of mild forms of the disease...
October 24, 2018: Journal of Gastroenterology and Hepatology
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