{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T18:56:24Z","timestamp":1774032984806,"version":"3.50.1"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,7,26]]},"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM <jats:bold>#<\/jats:bold> 250400) after his exome sequencing revealed novel variations in the <jats:italic>MMP13<\/jats:italic> gene (OMIM <jats:bold>*<\/jats:bold> 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.<\/jats:p>","DOI":"10.1136\/bcr-2019-230257","type":"journal-article","created":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T07:17:32Z","timestamp":1565767052000},"page":"e230257","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Metaphyseal dysplasia, Spahr type: a mimicker of rickets"],"prefix":"10.1136","volume":"12","author":[{"given":"Muthuvel","family":"Balasubramaniyan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anindita","family":"Sinha","sequence":"additional","affiliation":[{"name":"Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nirmal Raj","family":"Gopinathan","sequence":"additional","affiliation":[{"name":"Orthopaedics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,13]]},"reference":[{"key":"2025082707270127000_12.8.e230257.1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082707270127000_12.8.e230257.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"2025082707270127000_12.8.e230257.3","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1002\/ajmg.a.36431","article-title":"MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type","volume":"164A","author":"Bonaf\u00e9","year":"2014","journal-title":"Am J Med Genet A"},{"key":"2025082707270127000_12.8.e230257.4","first-page":"1683","article-title":"[Metaphyseal chondrodysplasia as differential diagnosis to rickets]","volume":"158","author":"Dahl","year":"1996","journal-title":"Ugeskr Laeger"},{"key":"2025082707270127000_12.8.e230257.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.014"},{"key":"2025082707270127000_12.8.e230257.6","doi-asserted-by":"crossref","unstructured":"Song C , Li N , Hu X , et al . A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia. Eur J Med Genet 2018:30150\u20132.doi:10.1016\/j.ejmg.2018.11.009","DOI":"10.1016\/j.ejmg.2018.11.009"},{"key":"2025082707270127000_12.8.e230257.7","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1111\/j.1399-0004.1990.tb03576.x","article-title":"The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed","volume":"38","author":"Farag","year":"1990","journal-title":"Clin Genet"},{"key":"2025082707270127000_12.8.e230257.8","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1002\/ajmg.a.32390","article-title":"A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes","volume":"146A","author":"M\u00e9garban\u00e9","year":"2008","journal-title":"Am J Med Genet A"},{"key":"2025082707270127000_12.8.e230257.9","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/ejhg.2014.76","article-title":"Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia","volume":"23","author":"Li","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2025082707270127000_12.8.e230257.10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1097\/MCD.0000000000000151","article-title":"Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings","volume":"26","author":"Tadros","year":"2017","journal-title":"Clin Dysmorphol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-230257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:27:10Z","timestamp":1756304830000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-230257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2019,8,13]]},"published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1136\/bcr-2019-230257"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-230257","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8]]}}}