{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:12:40Z","timestamp":1774645960555,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a heterogeneous group of disorders with bone fragility. In 2019, homozygous pathogenic variants in <jats:italic>MESD<\/jats:italic> were described for the first time in five patients with severe form of OI. To date, 12 patients have been reported. The aim of this study is to report long\u2010term follow\u2010up findings of a girl with <jats:italic>MESD<\/jats:italic> variant. She had triangular face, sparse hair, wide fontanelle, blue sclera, softening of the occipital bone, congenital torticollis, and long fingers. Wormian bones, multiple rib and long bone fractures, and platyspondyly were detected in her skeletal radiographs. During the 21\u2010years follow\u2010up, intellectual disability, oligodontia, recurrent fractures, bowing of humerus, hip and knee contractures leading to crossing of the legs, swelling of the interphalangeal joints, and kyphoscoliosis were observed. Although the bisphosphonate treatment was started at 2.5\u2009years of age, recurrent fractures continued to occur until 13\u2009years of age. She lost her walking ability at 4.5\u2009years of age. The final adult height was 128\u2009cm (\u22126.0 SD). Homozygous c.631_632delAA (p.Lys211Glufs*19) variant in <jats:italic>MESD<\/jats:italic> was detected at 19\u2009years of age. In conclusion, this study provides long\u2010term clinical and radiological findings in a patient with a very rare type of OI.<\/jats:p>","DOI":"10.1002\/ajmg.a.62664","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T09:11:20Z","timestamp":1643447480000},"page":"1639-1646","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long\u2010term follow\u2010up findings in a Turkish girl with osteogenesis imperfecta type <scp>XX<\/scp> caused by a homozygous <scp><i>MESD<\/i><\/scp> variant"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0495-6152","authenticated-orcid":false,"given":"Dilek","family":"Uluda\u011f Alkaya","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Cerrahpasa Medical Faculty, Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2035-4338","authenticated-orcid":false,"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical Faculty, Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Cerrahpasa Medical Faculty, Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9620-5021","authenticated-orcid":false,"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Cerrahpasa Medical Faculty, Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103476"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2011.01.010"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(03)00045-x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab017"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.08.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38491"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4277"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2021.100051"}],"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.62664","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62664","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62664","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T09:27:00Z","timestamp":1692955620000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,29]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/ajmg.a.62664"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62664","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,29]]},"assertion":[{"value":"2021-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}