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Thematische Bibliographien / Ehlers-Danlos syndrome / Zeitschriftenartikel

Zeitschriftenartikel zum Thema „Ehlers-Danlos syndrome“

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Autor: Grafiati

Veröffentlicht am 4. Juni 2021

Zuletzt aktualisiert am 20. Februar 2023

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1

Jayarajan, Senthil N., Brandon D. Downing, Luis A. Sanchez und Jeffrey Jim. „Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome“. Vascular 28, Nr. 6 (19.05.2020): 834–41. http://dx.doi.org/10.1177/1708538120925597.

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Objectives Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. Methods The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. Results There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair ( p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days ( p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). Conclusions Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.

2

Jones, Jordan T., William R. Black, Christine N. Moser, Eric T. Rush und Lindsey Malloy Walton. „Gender dysphoria in adolescents with Ehlers–Danlos syndrome“. SAGE Open Medicine 10 (Januar 2022): 205031212211460. http://dx.doi.org/10.1177/20503121221146074.

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Objectives: Ehlers–Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility. Ehlers–Danlos Syndrome presents with clinical sequela across multiple body systems that require multidisciplinary care. Little is known about adolescents with Ehlers–Danlos Syndrome who are transgender and gender diverse. To date, there have been no reports of transgender and gender diverse youth in pediatric patients with Ehlers–Danlos Syndrome. The objective of this study was to characterize transgender and gender diverse adolescents with Ehlers–Danlos Syndrome seen in a pediatric multidisciplinary specialty clinic. Methods: A retrospective chart review was performed and it was found that 28 patients were seen in the Ehlers–Danlos Syndrome multidisciplinary clinic were reported being transgender and gender diverse. Chart review included analysis of all documents in the electronic medical record, including demographic data, gender identity, chosen pronouns, specialty care previously received for Ehlers–Danlos Syndrome, symptoms and conditions related to it, and medications. Results: Of the 166 total adolescents seen in the pediatric multidisciplinary Ehlers–Danlos Syndrome clinic during the study period, 17% reported gender dysphoria. The average age at Ehlers–Danlos Syndrome diagnosis was 13.5 years (range 8–17 years). Most (61%) reported their gender identity as transgender, followed by nonbinary (14%). Most had preferred male (he/him) pronouns (47%), followed by nonbinary (they/them) pronouns (39%). The vast majority reported fatigue (75%), musculoskeletal issues (96%), psychiatric issues (86%), cardiac issues (71%), gastrointestinal issues (68%), and neurologic issues (79%). Conclusions: Here we report the first cohort of transgender and gender diverse adolescents in the Ehlers–Danlos syndrome population and show an association between the two. This report increases awareness for providers who care for patients with Ehlers–Danlos Syndrome. As care for those with Ehlers–Danlos Syndrome is often complex and multidisciplinary, providers should adopt practices of gender-affirming medical care that contribute to improved care and outcomes.

3

Ralovich, Fanni Virág, Norbert Kiss, Krisztina Horváth, Sarolta Kárpáti und Márta Medvecz. „Az Ehlers–Danlos-szindrómák korszerű osztályozása és multidiszciplináris tünettana“. Orvosi Hetilap 160, Nr. 16 (April 2019): 603–12. http://dx.doi.org/10.1556/650.2019.31351.

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Abstract: In this review article, the authors summarize the clinical aspects of the novel classification of Ehlers–Danlos syndrome, which is a group of rare, hereditary connective tissue disorders. The leading symptom of the Ehlers–Danlos syndrome group is joint hypermobility, skin hyperextensibility and generalized tissue fragility. Ehlers–Danlos syndrome displays a high clinical and genetic heterogeneity and harbors many multidisciplinary properties. Certain subtypes only affect the quality of life, while other forms may lead to severe, even fatal vascular or intestinal complications. Last year, based on the data of various international genotype-phenotype correlation studies of large populations, a new classification of the syndrome’s clinical subtypes was introduced. The novel international nosology of Ehlers–Danlos syndromes published in 2017 delineates 13 clinical subtypes, describes their genetic background and defines major and minor diagnostic criteria for each subtype. We gathered the complex, multidisciplinary symptoms of Ehlers–Danlos syndromes in a table to assist the diagnosis from a differential diagnostic point of view. In the clinical practice, the proper diagnosis of patients affected by the Ehlers–Danlos syndrome group is essential to give optimal clinical care and to prevent the development of severe complications. Orv Hetil. 2019; 160(16): 603–612.

4

Karthikeyan, Akilandeswari, und Narayanaswamy Venkat-Raman. „Hypermobile Ehlers–Danlos syndrome and pregnancy“. Obstetric Medicine 11, Nr. 3 (20.03.2018): 104–9. http://dx.doi.org/10.1177/1753495x18754577.

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Ehlers–Danlos syndromes are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders. Hypermobile Ehlers–Danlos syndrome is one of the common types and not infrequently encountered in pregnancy. While, in the majority of women with hypermobile Ehlers–Danlos syndrome, the pregnancy is uncomplicated, it is important to be aware of the condition in view of potential complications such as recurrent joint dislocations and history of surgical joint stabilization procedures, secondary autonomic pain and postural orthostatic tachycardia syndrome. Increased awareness of the condition and a multi-disciplinary approach to the management of these women in pregnancy result in good outcome for the mother and the baby. We report the clinical characteristics and outcome of pregnancies in eight women with hypermobile Ehlers–Danlos syndrome and present a review of the literature with particular reference to management in a pregnant woman with joint hypermobility syndrome.

5

Haubrich, William S. „Ehlers and Danlos of the Ehlers–Danlos Syndrome“. Gastroenterology 130, Nr. 1 (Januar 2006): 43. http://dx.doi.org/10.1053/j.gastro.2005.11.018.

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6

Taj, FarhanaTahseen, VijayaV Sajjan und Dolly Singh. „Ehlers-Danlos syndrome“. Indian Dermatology Online Journal 5, Nr. 5 (2014): 68. http://dx.doi.org/10.4103/2229-5178.144554.

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7

Grahame, R. „Ehlers-Danlos syndrome“. South African Medical Journal 106, Nr. 6 (25.05.2016): 45. http://dx.doi.org/10.7196/samj.2016.v106i6.10991.

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8

Chen, Chuang-Wei, und Shu-Wen Jao. „Ehlers–Danlos Syndrome“. New England Journal of Medicine 357, Nr. 11 (13.09.2007): e12. http://dx.doi.org/10.1056/nejmicm066971.

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9

SAEmundsson, Jöhann. „Ehlers-Danlos Syndrome“. Acta Medica Scandinavica 154, S312 (24.04.2009): 399–408. http://dx.doi.org/10.1111/j.0954-6820.1956.tb17020.x.

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10

Tulika, Wakhloo, und Aradhya Kiran. „Ehlers-Danlos syndrome“. Journal of Dental Research and Review 2, Nr. 1 (2015): 42. http://dx.doi.org/10.4103/2348-2915.154652.

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11

Pyeritz, Reed E. „Ehlers–Danlos Syndrome“. New England Journal of Medicine 342, Nr. 10 (09.03.2000): 730–32. http://dx.doi.org/10.1056/nejm200003093421009.

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12

Gawthrop, Frances, Rae Mould, Amanda Sperritt und Fiona Neale. „Ehlers-Danlos syndrome“. BMJ 335, Nr. 7617 (30.08.2007): 448–50. http://dx.doi.org/10.1136/bmj.39237.484468.80.

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13

Jones, M. L. „Ehlers-Danlos syndrome“. Journal of the American Dental Association 110, Nr. 1 (Januar 1985): 12. http://dx.doi.org/10.14219/jada.archive.1985.0301.

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14

Varner, Christine A. „Ehlers-Danlos syndrome“. Nursing Made Incredibly Easy! 18, Nr. 1 (2020): 15–20. http://dx.doi.org/10.1097/01.nme.0000613644.67455.9f.

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15

Narayanan, M., und J. Watkiss. „Ehlers-Danlos syndrome“. Acta Anaesthesiologica Scandinavica 53, Nr. 7 (August 2009): 971. http://dx.doi.org/10.1111/j.1399-6576.2009.02008.x.

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16

Atkinson, G. „Ehlers-Danlos syndrome“. British Dental Journal 229, Nr. 3 (August 2020): 153. http://dx.doi.org/10.1038/s41415-020-2019-3.

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17

Vallow, Dorothy M. „Ehlers Danlos Syndrome“. Physiotherapy 75, Nr. 9 (September 1989): 518. http://dx.doi.org/10.1016/s0031-9406(10)62311-5.

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18

Smith, Hilary J. „Ehlers Danlos Syndrome“. Physiotherapy 75, Nr. 9 (September 1989): 518. http://dx.doi.org/10.1016/s0031-9406(10)62312-7.

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19

Rowe, Peter C., Diana F. Barron, Hugh Calkins, Irene H. Maumenee, Patrick Y. Tong und Michael T. Geraghty. „Ehlers-Danlos syndrome“. Journal of Pediatrics 135, Nr. 4 (Oktober 1999): 513. http://dx.doi.org/10.1016/s0022-3476(99)70176-9.

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20

Pope, F. M. „Ehlers-Danlos syndrome“. Baillière's Clinical Rheumatology 5, Nr. 2 (August 1991): 321–49. http://dx.doi.org/10.1016/s0950-3579(05)80286-9.

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21

OʼConnor, Carolyn Riester, und Joseph Rothrock. „Ehlers-Danlos Syndrome“. JCR: Journal of Clinical Rheumatology 1, Nr. 1 (Februar 1995): 13. http://dx.doi.org/10.1097/00124743-199502000-00004.

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22

Choudhury, R., V. Revenco und R. Darciuc. „Ehlers-Danlos syndrome“. Case Reports 2009, jul14 1 (14.07.2009): bcr0520091850. http://dx.doi.org/10.1136/bcr.05.2009.1850.

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23

Sasaki, Tetsuo. „Ehlers-Danlos Syndrome“. Archives of Dermatology 123, Nr. 1 (01.01.1987): 76. http://dx.doi.org/10.1001/archderm.1987.01660250082024.

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24

Christophersen, Christy, und Julie E. Adams. „Ehlers-Danlos Syndrome“. Journal of Hand Surgery 39, Nr. 12 (Dezember 2014): 2542–44. http://dx.doi.org/10.1016/j.jhsa.2014.08.008.

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25

Šinská, Alexandra, Eliška Hostinská und Radovan Pilka. „Osteogenesis imperfecta/Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy“. Česká gynekologie 87, Nr. 6 (23.12.2022): 396–400. http://dx.doi.org/10.48095/cccg2022396.

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Ehlers-Danlos syndrome is in a group of connective tissue disorders that can result in a range of complications during pregnancy. Clinical manifestations include skin hyperextensibility, atrophic scarring, poor wound healing, hyperflexibility or higher risk of organ ruptures (uterine rupture, aortal dissection). The combination of Ehlers-Danlos syndrome and osteogenesis imperfecta is very rare (< 1/1,000,000 according to Orphanet). We are presenting a case of woman with osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome and her pregnancy complicated by aortal dilatation. Our case has attempted to highlight the potential obstetric complications and to attract the attention of clinical physicians to the rare but extremely dangerous syndrome. Key words: Ehlers-Danlos syndrome – osteogenesis imperfecta – COL1-related disorder – pregnancy – aortal dissection

26

Vos, Aimee, und Katharine Burns. „Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report“. Clinical Practice and Cases in Emergency Medicine 2, Nr. 5 (23.04.2021): 226–29. http://dx.doi.org/10.5811/cpcem.2021.3.51787.

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Introduction: Ehlers-Danlos syndrome is a well classified connective tissue disorder recognized by its features of hyperextensibility of joints and hyperelasticity of the skin. However, the rare vascular type (Ehlers-Danlos type IV) is more difficult to identify in the absence, rarity, or subtlety of the classical physical features. Patients presenting to the emergency department (ED) with acute complications of vascular Ehlers-Danlos syndrome may be critically ill, requiring accurate diagnosis and tailored management. Case Report: This report details a case of spontaneous innominate artery pseudoaneurysm rupture in a pediatric patient with previously undiagnosed Ehlers-Danlos syndrome. Initial ED evaluation was followed by urgent operative intervention and subsequent genetic testing to confirm final diagnosis. Conclusion: Due to its high morbidity and mortality, vascular type Ehlers-Danlos syndrome should be considered in the differential for otherwise unexplained spontaneous vascular injury.

27

Pajak, Michal, Marcin A. Majos, Wojciech Szubert, Ludomir Stefanczyk und Agata Majos. „Acute brain ischemia as a complication of the Ehlers–Danlos syndrome, the case series“. Vascular 22, Nr. 5 (30.09.2013): 341–45. http://dx.doi.org/10.1177/1708538113505519.

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Vascular type of Ehlers–Danlos syndrome involves many severe complications leading not only to organ-specific symptoms but often ends in a sudden death. The aim of this paper was to present a diagnostic possibilities and its efficiency rate in patients with vascular complications of Ehlers–Danlos syndrome who suffered from artery dissection resulting in acute brain or limb ischemia. We analysed three patients with diagnosed Ehlers–Danlos syndrome who were referred to radiology department for diagnostic imaging of affected vascular beds, each experienced brain ischemia. The paper also aims at offering some general recommendations for patients suffering from possible complications of type IV Ehlers–Danlos syndrome basing on our own experience and available literature data.

28

WATT, N. A. R., und G. HOOPER. „Skeletal Changes in the Hand in the Ehlers-Danlos Syndrome“. Journal of Hand Surgery 12, Nr. 3 (Juni 1987): 394–95. http://dx.doi.org/10.1016/0266-7681_87_90197-5.

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We report a woman patient with Ehlers-Danlos Syndrome who presented with trapeziometacarpal subluxation and whose hands exhibited several other skeletal features of Ehlers-Danlos Syndrome, including acro-osteolysis.

29

Lee, Hea Ran, Si Chan Kim, Eun Hye Yang, Su Yun Jung, Jai Won Chang und Eun Kyoung Lee. „Renal Infarction in Vascular Ehlers-Danlos Syndrome“. Korean Journal of Medicine 97, Nr. 4 (01.08.2022): 271–76. http://dx.doi.org/10.3904/kjm.2022.97.4.271.

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Renal infarction is a condition caused by sudden disturbance of renal arterial blood flow, which occurs frequently in cardioembolic disease, renal artery injury (trauma, Marfan syndrome, rarely Ehlers-Danlos syndrome), and in association with a hypercoagulable state. Ehlers-Danlos syndrome is a rare hereditary connective tissue disease characterized by skin fragility, hyperelasticity, hypermobility of small joints, and easy bruising. Among the subtypes, vascular Ehlers-Danlos syndrome is a very rare genetic disease caused by a mutation in the <i>COL3A1</i> gene. As blood vessels are fragile due dysfunctional collagen synthesis, complications of bleeding due to arterial dissection or rupture are common in patients with this disease. Here, we report a case of vascular Ehlers-Danlos syndrome diagnosed based on a renal infarction caused by thrombus and renal artery injury; we also present a review of the relevant literature.

30

Wadia, Reena. „Periodontal Ehlers-Danlos syndrome“. British Dental Journal 233, Nr. 4 (26.08.2022): 286. http://dx.doi.org/10.1038/s41415-022-4948-5.

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31

Doll, Sara, und Barbara Kleffmann. „Die Ehlers-Danlos-Syndrome“. Osteopathische Medizin 22, Nr. 3 (September 2021): 33–36. http://dx.doi.org/10.1016/s1615-9071(21)00084-8.

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32

Beridze, Natalia, und William H. Frishman. „Vascular Ehlers-Danlos Syndrome“. Cardiology in Review 20, Nr. 1 (2012): 004–7. http://dx.doi.org/10.1097/crd.0b013e3182342316.

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33

Zemrani, Boutaina, Elizabeth McLeod, Elizabeth Rogers, Joanna Lawrence, Debi Feldman, Victoria Evans, Helen Shalley und Julie Bines. „Vascular Ehlers-Danlos Syndrome“. Journal of Pediatric Gastroenterology and Nutrition 68, Nr. 1 (Januar 2019): e14-e15. http://dx.doi.org/10.1097/mpg.0000000000002074.

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34

Coggings, Diane. „The Ehlers-Danlos Syndrome“. Physiotherapy 81, Nr. 9 (September 1995): 531. http://dx.doi.org/10.1016/s0031-9406(05)66685-0.

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35

Nakamura, Michinari, Junji Yajima, Yuji Oikawa, Ken Ogasawara, Tokuhisa Uejima, Keiko Abe und Tadanori Aizawa. „Vascular Ehlers-Danlos syndrome“. Journal of Cardiology 53, Nr. 3 (Juni 2009): 458–62. http://dx.doi.org/10.1016/j.jjcc.2008.09.007.

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36

Germain, Dominique P., und Yessica Herrera-Guzman. „Vascular Ehlers–Danlos syndrome“. Annales de Génétique 47, Nr. 1 (Januar 2004): 1–9. http://dx.doi.org/10.1016/j.anngen.2003.07.002.

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37

Frank, Michael, Salma Adham, Stéphanie Seigle, Anne Legrand, Tristan Mirault, Pierrick Henneton, Juliette Albuisson et al. „Vascular Ehlers-Danlos Syndrome“. Journal of the American College of Cardiology 73, Nr. 15 (April 2019): 1948–57. http://dx.doi.org/10.1016/j.jacc.2019.01.058.

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38

Osório, Joana. „Vascular Ehlers–Danlos syndrome“. Nature Reviews Cardiology 7, Nr. 12 (24.11.2010): 664. http://dx.doi.org/10.1038/nrcardio.2010.168.

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39

Adikaram, S. G. S., P. W. Chathurangana und T. M. R. Perera. „Classic Ehlers-Danlos syndrome“. Sri Lanka Journal of Child Health 43, Nr. 1 (09.03.2014): 61. http://dx.doi.org/10.4038/sljch.v43i1.6667.

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40

Milewicz, Dianna M., Amy J. Reid und Alana C. Cecchi. „Vascular Ehlers–Danlos Syndrome“. Circulation: Cardiovascular Genetics 7, Nr. 1 (Februar 2014): 5–7. http://dx.doi.org/10.1161/circgenetics.114.000507.

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41

Chatzoudis, D., TJ Kelly, J. Lancaster und TM Jones. „Upper airway obstruction in a patient with Ehlers–Danlos syndrome“. Annals of The Royal College of Surgeons of England 97, Nr. 3 (April 2015): e50-e51. http://dx.doi.org/10.1308/003588414x14055925061793.

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We report a case of recurrent airway obstruction episodes resulting from laryngeal hypermobility in a patient with Ehlers–Danlos syndrome. A 44-year-old woman, with known Ehlers–Danlos syndrome, presented with recent onset of episodes of upper airway obstruction due to hypermobility of her larynx. A suitable conservative management strategy proved elusive and the patient finally underwent a thyrohyoidopexy. The patient remains symptom free nine months after the procedure. This is the first report of spontaneous life threatening upper airway obstruction due to hypermobility of the suprahyoid suspensory soft tissues in Ehlers–Danlos syndrome.

42

Callewaert, Bert, Fransiska Malfait, Bart Loeys und Anne De Paepe. „Ehlers-Danlos syndromes and Marfan syndrome“. Best Practice & Research Clinical Rheumatology 22, Nr. 1 (März 2008): 165–89. http://dx.doi.org/10.1016/j.berh.2007.12.005.

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43

Tinkle, Brad, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz und Howard Levy. „Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history“. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, Nr. 1 (01.02.2017): 48–69. http://dx.doi.org/10.1002/ajmg.c.31538.

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44

Santos, Laryssa Augustinho dos, Brunna Michelly da Silva Sousa, Enzo Cardoso de Faria, Rafaela Lemos Quirino, Sadrack Hiran da Silva Júnior, Yumi Kudo e. Leandro, Luisa Freire Barcelos et al. „Síndrome Ehlers-Danlos: Relato de Caso/ Ehlers-Danlos Syndrome: Case Report“. Brazilian Journal of Health Review 4, Nr. 5 (13.10.2021): 21834–43. http://dx.doi.org/10.34119/bjhrv4n5-274.

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45

Schievink, Wouter I., David G. Piepgras, Franklin Earnest und Hymie Gordon. „Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV“. Journal of Neurosurgery 74, Nr. 6 (Juni 1991): 991–98. http://dx.doi.org/10.3171/jns.1991.74.6.0991.

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✓ Spontaneous bilateral carotid-cavernous fistulae and cervical artery dissection is reported in a 20-year-old woman with Ehlers-Danlos syndrome Type IV. The clinical features of 16 previously published cases of spontaneous carotid-cavernous fistulae associated with Ehlers-Danlos syndrome Type IV are reviewed, for a total of 17 cases. The mean age of the 14 women and three men was 31.6 years. Only direct fistulae were encountered. Diagnostic neuroangiography carried morbidity and mortality rates of 36% and 12%, respectively; neuroradiological treatment resulted in death in one of six patients. The possible value of desmopressin in the management of these patients is discussed. In view of the risks of arterial puncture and surgery, the authors emphasize the importance of early recognition of Ehlers-Danlos syndrome.

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Hamel, Ben C. J. „Classification, nosology and diagnostics of Ehlers-Danlos syndrome“. Journal of Biomedicine and Translational Research 5, Nr. 2 (10.10.2019): 34–46. http://dx.doi.org/10.14710/jbtr.v5i2.4531.

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Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility. The 2017 New York nosology distinguishes 13 types of EDS, which all, except hypermobile EDS, have a known molecular basis. Hypermobile EDS is recognized as a common and often disabling disorder, incorporating benign joint hypermobility syndrome. EDS needs to be differentiated from other connective tissue disorders, in particular Marfan syndrome, Loeys-Dietz syndrome and cutis laxa. The frequent types of EDS can be diagnosed after careful history taking and clinical examination, but for definite diagnosis molecular confirmation is needed in all types. Management for EDS patients preferably is provided by multidisciplinary teams in expertise centres. After diagnosing EDS genetic counselling is an essential part of the management of patients and their family.

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Malayeva, E. G., E. E. Karpenko und E. V. Tsitko. „VASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN“. Health and Ecology Issues, Nr. 1 (28.03.2018): 105–8. http://dx.doi.org/10.51523/2708-6011.2018-15-1-20.

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Vascular Ehlers-Danlos syndrome is a rare inherited autosomal dominant disorder of connective tissue caused by a mutation in the procollagen III gene (COL3A1 gene). Among all the types of the disease the vascular type involves ~5-10% of cases. The diagnosis is based on clinical criteria and mutations in the COL3A1 gene. The treatment of Ehlers-Danlos syndrome is symptomatic, there is no specific treatment.

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Patel, Mittal, und Vik Khullar. „Urogynaecology and Ehlers–Danlos syndrome“. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 187, Nr. 4 (20.11.2021): 579–85. http://dx.doi.org/10.1002/ajmg.c.31959.

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Rosita, M., I. R. N. Alima und E. I. Auerkari. „Genetics of ehlers-danlos syndrome“. Journal of Physics: Conference Series 1943, Nr. 1 (01.07.2021): 012092. http://dx.doi.org/10.1088/1742-6596/1943/1/012092.

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Apaydin, Aysegul. „Ehlers-Danlos Syndrome (Type VIII).“ Journal of Nihon University School of Dentistry 37, Nr. 4 (1995): 214–17. http://dx.doi.org/10.2334/josnusd1959.37.214.

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