{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:15:07Z","timestamp":1791900907012,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,2,19]],"date-time":"2007-02-19T00:00:00Z","timestamp":1171843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:p>Infantile cortical hyperostosis (ICH) is an inherited disorder characterized by hyperirritability, acute inflammation of soft tissues, and massive subperiosteal new bone formation. It typically appears in early infancy and is considered a benign self\u2010limiting disease. We report a three\u2010generation Thai family with ICH, the oldest being a 75\u2010year\u2010old man. A heterozygous mutation for a 3040C\u2192T in exon 41 of <jats:italic>COL1A1 <\/jats:italic>was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation. The novel findings in our studies include short stature and persistent bony deformities in the elderly. The height mean Z\u2010score of the five affected individuals was \u22121.75, compared to 0.53 of the other seven unaffected individuals giving a p\u2010value of 0.008. Short stature may be partly due to progressive height loss from scoliosis, compression fractures of the spine and genu varus. These features, which have not previously been described, expand the phenotypic spectrum of the Caffey disease.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00768.x","type":"journal-article","created":{"date-parts":[[2007,2,19]],"date-time":"2007-02-19T12:49:04Z","timestamp":1171889344000},"page":"280-284","source":"Crossref","is-referenced-by-count":27,"title":["Expanding the phenotypic spectrum of Caffey disease"],"prefix":"10.1111","volume":"71","author":[{"given":"K","family":"Suphapeetiporn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Tongkobpetch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Mahayosnond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Shotelersuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,19]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"347","article-title":"Infantile cortical hyperostosis; a review of the clinical and radiographic features","volume":"50","author":"Caffey J","year":"1957","journal-title":"Proc R Soc Med"},{"key":"e_1_2_6_3_2","first-page":"777","article-title":"Familial aspects of Caffey\u2019s disease","volume":"24","author":"Bernstein RM","year":"1995","journal-title":"Am J Orthop"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445672"},{"key":"e_1_2_6_5_2","first-page":"1172","article-title":"Familial infantile cortical hyperostosis in a large Canadian family","volume":"130","author":"Maclachlan AK","year":"1984","journal-title":"Can Med Assoc J"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.137.1.93"},{"key":"e_1_2_6_7_2","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1542\/peds.55.6.856","article-title":"Recurrent Caffey\u2019s cortical hyperostosis and persistent deformity","volume":"55","author":"Blank E","year":"1975","journal-title":"Pediatrics"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03104.x"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1148\/59.5.651"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80013-3"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1951.63670130002012a"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80282-4"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.93.3.417"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI22760"},{"issue":"77","key":"e_1_2_6_15_2","first-page":"31","article-title":"Ehlers\u2010Danlos syndromes: revised nosology","volume":"1998","author":"Beighton P","year":"1997","journal-title":"Villefranche"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.me.43.020192.001413"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1488"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00768.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00768.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T22:50:11Z","timestamp":1697410211000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00768.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2,19]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00768.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00768.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2,19]]}}}