{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:35:55Z","timestamp":1762864555412},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T00:00:00Z","timestamp":1032307200000},"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":[[2003,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective tissue. It is believed to be inherited as an X\u2010linked trait. Features of frontometaphyseal dysplasia overlap with other skeletal dysplasias. Prominent supraorbital ridges, radiologic evidence of cranial hyperostosis, and flared metaphyses are characteristic. Scoliosis, a rare associated finding, is usually mild, and familial progressive scoliosis has not been reported so far. The skeletal dysplasia and the associated clinical findings show significant intra\u2010 and interfamilial variability. The syndrome has been suggested to be an allelic variant of the Melnick\u2010Needles osteodysplasty, an X\u2010linked (dominant) entity. We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity \u201cfronto\u2010otopalatodigital\u2010osteodysplasty syndome\u201d. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10831","type":"journal-article","created":{"date-parts":[[2002,12,28]],"date-time":"2002-12-28T17:02:21Z","timestamp":1041094941000},"page":"272-277","source":"Crossref","is-referenced-by-count":19,"title":["Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families"],"prefix":"10.1002","volume":"116A","author":[{"given":"\u00c9va","family":"Morava","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tam\u00e1s","family":"Ill\u00e9s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e1nos","family":"Weisenbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"K\u00e1rteszi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Kosztol\u00e1nyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,9,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.1.53"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1972.02110090124022"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01433.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<10::AID-AJMG3>3.0.CO;2-T"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570102"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100040489014"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050111"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.103.4.1264"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"392","DOI":"10.2106\/00004623-197860030-00022","article-title":"Frontometaphyseal dysplasia presenting as scoliosis","volume":"60","author":"Medlar RC","year":"1978","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.9.622"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<341::AID-AJMG16>3.0.CO;2-K"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001106)95:1<86::AID-AJMG19>3.0.CO;2-3"},{"key":"e_1_2_5_14_1","first-page":"2","article-title":"Fronto\u2010metaphyseal dysplasia and the oto\u2010palato\u2010digital syndrome","volume":"1","author":"Superti\u2010Furga A","year":"1987","journal-title":"Dysmorph Clin Genet"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-198207000-00004"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1976.02120040037007"}],"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.10831","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10831","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T01:44:10Z","timestamp":1700271850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,18]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,1,30]]}},"alternative-id":["10.1002\/ajmg.a.10831"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10831","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2002,9,18]]}}}