{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T19:32:40Z","timestamp":1778873560451,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Infantile cortical hyperostosis (Caffey disease) is benign and self\u2010limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21\u2010year\u2010old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation (3040C\u2009\u2192\u2009T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C\u2009\u2192\u2009T mutation can also be found in lethal prenatal cortical hyperostosis. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32351","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:22:27Z","timestamp":1213410147000},"page":"1820-1824","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal cortical hyperostosis with <i>COL1A1<\/i> gene mutation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Agn\u00e8s","family":"Kamoun\u2010Goldrat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Saada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Sonigo\u2010Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferechte","family":"Razavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"15","article-title":"The difficulty of diagnosing Caffey's disease in utero. A propos of a case simulating lethal osteogenesis imperfecta","volume":"38","author":"Bercau G","year":"1991","journal-title":"Ann Pediatr (Paris)"},{"key":"e_1_2_4_3_1","first-page":"139","article-title":"Autosomal dominant inheritance of Caffey disease","volume":"10","author":"Bull MJ","year":"1974","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/80.3.409"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/00313020120083304"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590203"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199708)17:8<773::AID-PD125>3.0.CO;2-U"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445672"},{"key":"e_1_2_4_9_1","first-page":"271","article-title":"Familial appearance of infantile cortical hyperostosis (Caffey\u2010Silverman syndrome)","volume":"164","author":"Faul R","year":"1961","journal-title":"Arch Kinderheilkd"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00708.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI22760"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(61)80238-2"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120803"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00754.x"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.137.1.93"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1227953"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20062"},{"key":"e_1_2_4_18_1","first-page":"16","article-title":"Findings of heritable Caffey disease on ultrasound at 35 weeks gestation","volume":"12","author":"Stevenson RE","year":"1993","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199301000-00012"},{"key":"e_1_2_4_20_1","first-page":"613","article-title":"Infantile cortical hyperostosis: An inquiry into its familial aspects","volume":"85","author":"Van Buskirk FW","year":"1961","journal-title":"Am J Roentgenol Radium Ther Nucl Med"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32351","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32351","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:53:34Z","timestamp":1699966414000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32351"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,13]]},"references-count":19,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,7,15]]}},"alternative-id":["10.1002\/ajmg.a.32351"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32351","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,13]]}}}