{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:09:43Z","timestamp":1790456983709,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,1,30]],"date-time":"2006-01-30T00:00:00Z","timestamp":1138579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers\u2010Danlos syndrome (VEDS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two hundred forty\u2010nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia\/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the \u201chand holding the head sign\u201d were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.21557","type":"journal-article","created":{"date-parts":[[2006,1,30]],"date-time":"2006-01-30T22:25:26Z","timestamp":1138659926000},"page":"515-523","source":"Crossref","is-referenced-by-count":70,"title":["Clinical study of hereditary disorders of connective tissues in a Chilean population"],"prefix":"10.1002","volume":"54","author":[{"given":"Jaime F.","family":"Bravo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,30]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.26.5.419"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/40.5.485"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/35.9.861"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.2.188"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/24.4.326"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/32.2.116"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.32.5.413"},{"key":"e_1_2_6_9_2","first-page":"1119","volume-title":"Cecil textbook of medicine","author":"Pyeritz RE","year":"2000"},{"key":"e_1_2_6_10_2","first-page":"483","article-title":"Heritable disorders of connective tissue","volume":"12","author":"Pyeritz RE","year":"2001","journal-title":"Primer on Rheumatic Diseases"},{"key":"e_1_2_6_11_2","first-page":"1777","article-title":"The British Society for Rheumatology Special Interest Group on Heritable Disorders of Connective Tissue criteria for the benign joint hypermobility syndrome: the revised (Brighton 1998) criteria for the diagnosis of BJHS","volume":"27","author":"Grahame R","year":"2000","journal-title":"J Rheumatol"},{"key":"e_1_2_6_12_2","first-page":"298","article-title":"Una estimaci\u00f3n de la laxitud articular en la consulta externa","volume":"28","author":"Guma M","year":"2001","journal-title":"Rev Esp Reumatol"},{"key":"e_1_2_6_13_2","first-page":"33","article-title":"Importancia de la hipermovilidad articular como causa frecuente de morbilidad, no s\u00f3lo m\u00fasculo\u2010esquel\u00e9tica, sino tambi\u00e9n sist\u00e9mica: criterios diagn\u00f3sticos","volume":"19","author":"Bravo JF","year":"2003","journal-title":"Reumatologia"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)90514-4"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1176\/appi.psy.45.5.432"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.4.1314"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_6_20_2","first-page":"317","volume-title":"Connective tissue and its heritable disorders","author":"Byers P","year":"1993"},{"key":"e_1_2_6_21_2","volume-title":"Hypermobility syndrome: recognition and management for physiotherapists","author":"Keer R","year":"2003"},{"key":"e_1_2_6_22_2","first-page":"218","article-title":"Importancia del estudio de los chilenos de alta estatura: estudio comparativo de 33 marfanoides y 230 casos de s\u00edndrome de hiperlaxitud articular","volume":"20","author":"Bravo JF","year":"2004","journal-title":"Reumatologia"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1086\/376564"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22401.x"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.20488"},{"key":"e_1_2_6_26_2","first-page":"24","article-title":"S\u00edndrome de hipermovilidad articular (SHA): como diferenciarlo de las otras alteraciones hereditarias de la fibra col\u00e1gena","volume":"20","author":"Bravo JF","year":"2004","journal-title":"Reumatologia"},{"key":"e_1_2_6_27_2","unstructured":"BravoJF. 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