{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:30:59Z","timestamp":1779237059823,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T00:00:00Z","timestamp":1255651200000},"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":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial calvarial doughnut lesions (CDLs; OMIM 126550) is a rare autosomal dominant low bone density disorder characterized by distinctive X\u2010ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Only three families comprising 22 cases and 29 sporadic cases with the disorder have been reported. We describe a three\u2010generation family consisting of three cases with clinical, radiological, biochemical, and histological findings consistent with this condition. All affected family members presented with childhood onset primary osteoporosis and typical CDLs or hyperostosis of the skull. In addition, the youngest family member was diagnosed with congenital glaucoma and her paternal grandmother with chronic congestive glaucoma. Glaucoma has not been previously described in this disorder. Adult patients also had recurrent cranial nerve palsies. No pathogenic mutations in the genes encoding low density lipoprotein receptor\u2010related protein 5 (<jats:italic>LRP5<\/jats:italic>) or type I collagen (<jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic>) were identified, suggesting that the disorder is caused by another dominant, yet unidentified gene. The literature is reviewed. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33040","type":"journal-article","created":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T18:18:22Z","timestamp":1255717102000},"page":"2371-2377","source":"Crossref","is-referenced-by-count":12,"title":["Calvarial doughnut lesions and osteoporosis: A new three\u2010generation family and review"],"prefix":"10.1002","volume":"149A","author":[{"given":"E.","family":"Jaakkola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.M.","family":"Laine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.K.","family":"M\u00e4yr\u00e4np\u00e4\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Falck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ignatius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"204","article-title":"L\u00e9sions en beignet de la vo\u00fbte cr\u00e2nienne: Une dysplasie osseuse h\u00e9r\u00e9ditaire","volume":"39","author":"Aube L","year":"1988","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/119.2.385"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1154>3.0.CO;2-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1053069"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1984.tb02511.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(99)00257-4"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0033-8389(22)02693-8","article-title":"Radiographic manifestations of congenital anomalies of the skull","volume":"29","author":"Kaplan SB","year":"1991","journal-title":"Radiol Clin North Am"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.105.2.314"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002560050167"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00271.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.121.1.121"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1385\/JCD:2:1:45"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"}],"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.33040","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33040","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:35:22Z","timestamp":1697632522000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33040"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,28]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/ajmg.a.33040"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33040","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,28]]}}}