{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T19:37:31Z","timestamp":1761939451056,"version":"build-2065373602"},"reference-count":4,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8037,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a previously apparently undescribed Puretic syndrome\u2010like self\u2010limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs. Affected hands and feet acquire a pseudoacromegalic appearance; fingers become clawed; involvement of growth plates around knees may lead to asymmetrical shortness with secondary scoliosis.<\/jats:p><jats:p>Slow but normal healing during and after the course of the disease leaves severe cicatrization and chronic arthroses. No other organ system is involved, intellect is normal, and health and reproductive capacity are otherwise unimpaired. We propose the name Kirghizian dermatoosteolysis for this condition.<\/jats:p>","DOI":"10.1002\/ajmg.1320150204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:39:26Z","timestamp":1118504366000},"page":"205-210","source":"Crossref","is-referenced-by-count":8,"title":["Self\u2010limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family"],"prefix":"10.1002","volume":"15","author":[{"given":"S. I.","family":"Kozlova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. A.","family":"Altshuler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. L.","family":"Kravchenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1","article-title":"Arthro\u2010dentoosteodysplasia (Hajdu\u2010Cheney syndrome): Review of a genetic \u201cacroosteolysis\u201d syndrome","volume":"112","author":"Herrmann J","year":"1973","journal-title":"Z. Kinderheilkd"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00483734"},{"volume-title":"Man","year":"1978","author":"McKusick VA","key":"e_1_2_1_4_1"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1962.tb13905.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320150204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320150204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T04:52:38Z","timestamp":1697777558000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320150204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,6]]},"references-count":4,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1983,6]]}},"alternative-id":["10.1002\/ajmg.1320150204"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320150204","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"type":"print","value":"0148-7299"},{"type":"electronic","value":"1096-8628"}],"subject":[],"published":{"date-parts":[[1983,6]]}}}