{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:20:20Z","timestamp":1787235620290,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4902,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct \u201ccrumpled ear\u201d deformity. While the disorder is similar to Marfan syndrome, it was split from it due to the distinct physical appearance of the patients and, more importantly, the lack of heart and eye findings. Since the original report, several CCA patients have been found to have mitral valve prolapse, structural cardiac anomalies, and occasionally aortic root dilatations similar to those seen in Marfan syndrome. We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation. Our review of the literature of CCA showed that serial echo\u2010cardiography and careful eye examinations have not become a standard of medical practice in this condition. Partly this may be due to a lack of documented cases of CCA having severe ectopia lentis and cardiac complications. This patient underscores the need for periodic eye and echocardiographic evaluations of all CCA patients.<\/jats:p>","DOI":"10.1002\/ajmg.1320420106","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:33:06Z","timestamp":1118536386000},"page":"19-21","source":"Crossref","is-referenced-by-count":19,"title":["Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly"],"prefix":"10.1002","volume":"42","author":[{"given":"Erawati","family":"Bawle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Helen","family":"Quigg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180210"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02042.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80771-8"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197153050-00013"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-198506000-00032"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250414"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80608-8"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80772-X"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.3.317"},{"key":"e_1_2_1_11_1","first-page":"531","article-title":"Congenital contractural arachnodactyly: A syndrome simulating Marfan'ssyndrome","volume":"107","author":"Lowry RB","year":"1972","journal-title":"Canad Med Assoc J"},{"key":"e_1_2_1_12_1","first-page":"888","article-title":"Diagnosis and management of infantile Marfan syndrome","volume":"86","author":"Morse RP","year":"1990","journal-title":"Pediatrics"},{"issue":"5","key":"e_1_2_1_13_1","first-page":"155","article-title":"Clinical variability in the Marfan syndrome(s)","author":"Pyeritz RE","year":"1979","journal-title":"Birth Defects"},{"key":"e_1_2_1_14_1","first-page":"117","article-title":"Marfan's syndrome (arachnodactyly) with arthrogryposis (amyoplasia congenita)","volume":"99","author":"Reeve R","year":"1959","journal-title":"AJDC"},{"key":"e_1_2_1_15_1","first-page":"1055","article-title":"Kyphoscoliosis in congenital contractural arachnodactyly. A case report","volume":"12","author":"Shikata J","year":"1987","journal-title":"Spine"},{"key":"e_1_2_1_16_1","first-page":"156","article-title":"Arachnodactyly associated with aneurysm of the aorta","volume":"87","author":"Traisman HS","year":"1954","journal-title":"AJDC"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-58-695-1115"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T09:48:36Z","timestamp":1698054516000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1002\/ajmg.1320420106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420106","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}