{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:29:44Z","timestamp":1791203384916,"version":"4.2.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,10,25]],"date-time":"2001-10-25T00:00:00Z","timestamp":1003968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We recently found mutations of the transforming growth factor beta 1 (TGF\u2010\u03b21) gene (<jats:italic>TGFB1<\/jats:italic>) in 9 families, in which progressive diaphyseal dysplasia (Camurati\u2010Engelmann disease) is segregating [Kinoshita et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib7\">2000<\/jats:ext-link>: Nat Genetics 26:19\u201320]. During the study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations of the disorder, such as marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, delayed sexual development, increased serum alkaline phosphatase levels, and increased erythrocyte sedimentation rates. Radiographic studies in the two girls demonstrated not only diaphyseal dysplasia (cortical thickening of the diaphyses) resembling that of progressive diaphyseal dysplasia but also metaphyseal expansion of the long bones, coarse and thick trabeculae of the long and short tubular bones, striations in the spinal, pelvic, and long bones, and cranial sclerosis restricted to the petromastoid regions. These radiographic changes were overall identical with those seen in hyperostosis generalisata with striations of the bones rather than those in progressive diaphyseal dysplasia. Polymerase chain reaction\u2013direct sequencing of all exons and their flanking regions of <jats:italic>TGFB1<\/jats:italic> did not detect any mutations. PCR\u2010single strand conformational polymorphism analysis of the TGF\u2010\u03b2 type 1 receptor gene (<jats:italic>TGFBR1<\/jats:italic>) did not demonstrate any aberrant DNA fragments. We concluded from these findings that the two girls we described belong to a unique entity distinct from either of the two disorders. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10079","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:35:44Z","timestamp":1030293344000},"page":"5-11","source":"Crossref","is-referenced-by-count":29,"title":["Camurati\u2010Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones"],"prefix":"10.1002","volume":"107","author":[{"given":"Gen","family":"Nishimura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshio","family":"Makita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohsen","family":"Ghadami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,10,25]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"662","article-title":"Di un raro caso di osteite simmetrica ereditaria degli arti inferiori","volume":"6","author":"Camurati M","year":"1922","journal-title":"Chir Organi Mov"},{"key":"e_1_2_5_3_1","first-page":"1101","article-title":"Ein fall von osteopathia hyperostica (sclerotisans) multiplex infantalis","volume":"39","author":"Engelmann G","year":"1929","journal-title":"Fortschr Roentgenstr"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002560050547"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302728"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1302\/0301-620X.78B3.0780488","article-title":"Engelmann's disease: a 45 year follow\u2010up","volume":"78","author":"Grey AC","year":"1996","journal-title":"J Bone Joint Surg [Br]"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(79)80055-0"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/79128"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<153::AID-AJMG15>3.0.CO;2-U"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02593374"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10079","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T12:10:43Z","timestamp":1700395843000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,10,25]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/ajmg.10079"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10079","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,10,25]]}}}