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Here we report a 12\u2010year\u2010old boy from India with features of frontometaphyseal dysplasia who had severe scoliosis with neurological complications due to spinal cord compromise. Clinical examination of his mother also revealed mild features of FMD. The manuscript highlights the clinical presentation of the disorder and discusses the clinical heterogeneity of the otopalatodigital spectrum disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.62134","type":"journal-article","created":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T09:48:34Z","timestamp":1613987314000},"page":"1550-1553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["X\u2010linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy"],"prefix":"10.1002","volume":"185","author":[{"given":"Prabakaran","family":"Gangadaran","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu","family":"Kumari","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5307-5677","authenticated-orcid":false,"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100040489014"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197860030-00022"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10831"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31322"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.024"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24002"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38267"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62134","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62134","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62134","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T16:29:24Z","timestamp":1693585764000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,22]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1002\/ajmg.a.62134"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62134","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,2,22]]},"assertion":[{"value":"2020-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}