{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:06:51Z","timestamp":1791032811570,"version":"4.1.0"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,1]]},"abstract":"<jats:p>Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyoplasia, the different types of distal arthrogryposis, and symphalangism is discussed.<\/jats:p>","DOI":"10.1136\/jmg.30.1.78","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"78-80","source":"Crossref","is-referenced-by-count":27,"title":["Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis."],"prefix":"10.1136","volume":"30","author":[{"given":"C T","family":"Schrander-Stumpel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C J","family":"H\u00f6weler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A D","family":"Reekers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N M","family":"De Smet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J G","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,1,1]]},"reference":[{"key":"ref_1","first-page":"105","article-title":"Nicht-chromosomal bedingte dysmorphie syndrome. Klin Gen Paediatr Mainz Symposium","volume":"1","author":"Hall, J.G.","year":"1980","unstructured":"Hall JG. Nicht-chromosomal bedingte dysmorphie syndrome. Klin Gen Paediatr Mainz Symposium 1980;1:105-21."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/S0387-7604(84)80040-6","article-title":"The heterogeneity of distal arthrogryposis","volume":"6","author":"Hageman, G.; Jennekens, F.G.I.; Vette, J.K.; Willemse, J.","year":"1984","unstructured":"Hageman G, Jennekens FGI, Vette JK, Willemse J. The heterogeneity of distal arthrogryposis. Brain Dev 1984;6:273-83.","journal-title":"Brain Dev"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajmg.1320110208","article-title":"The distal arthrogryposes: delineation of new entities - review and nosologic discussion","volume":"11","author":"Hall, J.G.; Reed, S.D.; Greene, G.","year":"1982","unstructured":"Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities - review and nosologic discussion. Am J Med Genet 1982;11:185-239.","journal-title":"Am J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/ajmg.1320150407","article-title":"Amyoplasia: a common, sporadic condition with congenital contractures","volume":"15","author":"Hall, J.G.; Reed, S.D.; Driscoll, E.P.","year":"1983","unstructured":"Hall JG, Reed SD, Driscoll EP. Amyoplasia: a common, sporadic condition with congenital contractures. Am J7 Med Genet 1983;15:571-90.","journal-title":"Am J7 Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320240206","article-title":"Distal arthrogryposis type II. A family with varying congenital abnormalities","volume":"24","author":"Reiss, J.A.; Sheffield, L.J.","year":"1986","unstructured":"Reiss JA, Sheffield LJ. Distal arthrogryposis type II. A family with varying congenital abnormalities. Am 7 Med Genet 1986;24:255-67.","journal-title":"Am 7 Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1111\/j.1399-0004.1987.tb03152.x","article-title":"Distal symphalangism with involvement of the thumbs and great toes","volume":"32","author":"Matthews, S.; Famish, S.; Young, I.D.","year":"1987","unstructured":"Matthews S, Famish S, Young ID. Distal symphalangism with involvement of the thumbs and great toes. Clin Genet 1987;32:375-8.","journal-title":"Clin Genet"},{"key":"ref_7","first-page":"204","article-title":"Ophthalmologic findings associated wrietviheawrtohfrogtrhyepolsiitsermatuulrtei.plJex congenita: case report and Pediatr Ophthalmol Strab","volume":"26","author":"Zeiter, J.H.; Boniuk, M.","year":"1989","unstructured":"Zeiter JH, Boniuk M. Ophthalmologic findings associated wrietviheawrtohfrogtrhyepolsiitsermatuulrtei.plJex congenita: case report and Pediatr Ophthalmol Strab 1989;26:204-8."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.1.78","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:29:02Z","timestamp":1759724942000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.1.78"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1993,1,1]]},"published-print":{"date-parts":[[1993,1]]}},"alternative-id":["10.1136\/jmg.30.1.78"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.1.78","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,1]]}}}