{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T07:12:11Z","timestamp":1760080331376,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,12,6]],"date-time":"2019-12-06T00:00:00Z","timestamp":1575590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthopaedic Surgery"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:p>Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene. However, a clear distinction between various forms of skeletal dysplasias caused by the transient receptor potential vanilloid 4 (TRPV4) gene is difficult but could be achieved by a combination of gene sequencing, medical and radiological criteria. We hereby report a case of a 14\u2010month old girl who presented with an abnormal stature. The diagnosis of nonlethal MD was confirmed by X\u2010ray with dumbbell\u2010shaped long bones, platyspondyly, and delayed carpal ossification, as well as broadened pelvis with marginally widened ilia, epiphyseal plates, and slightly flattened acetabula. Furthermore, gene sequencing confirmed gene mutation on exon 15 of the TRPV4 gene with a heterozygous missense mutation (c.2396C &gt; T), but no mutation was present in her parents. Our findings recorded metatropic dysplasia with the c.2396C &gt; T mutation in the TRPV4 gene in China. This mutation caused changes in amino acid of TRPV4, which can induce growth retardation in children.<\/jats:p>","DOI":"10.1111\/os.12546","type":"journal-article","created":{"date-parts":[[2019,12,6]],"date-time":"2019-12-06T12:48:30Z","timestamp":1575636510000},"page":"333-336","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Metatropic Dysplasia of Nonlethal Variant in a Chinese Child \u2013 A Case Report"],"prefix":"10.1111","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1590-717X","authenticated-orcid":false,"given":"Michele A","family":"Tchio Tchoumba","sequence":"first","affiliation":[{"name":"Pediatric Department, Union Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Bai","sequence":"additional","affiliation":[{"name":"Pediatric Department, Union Hospital, Tongji 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