{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:09Z","timestamp":1753869729243,"version":"3.41.2"},"reference-count":7,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81973904"],"award-info":[{"award-number":["81973904"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2022,11]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>The EVEN\u2010plus syndrome (epiphyseal\u2013vertebral\u2013ear\u2013nose dysplasia plus associated findings) is an extremely rare autosomal recessive inherited disease characterised by specific facial features and skeletal dysplasia. It has a prenatal onset due to defects in the HSPA9<\/jats:italic> gene. The syndrome has not been reported previously in China.<\/jats:p><\/jats:sec>Methods<\/jats:title>This study reported the characteristics, examination results, diagnosis and treatment of a female case aged 3\u2009years and 3\u00a0months.<\/jats:p><\/jats:sec>Results<\/jats:title>The patient had global developmental delay and specific facial features, including a prominent forehead, a bilateral auricle deformity, a collapsed nose, a high palatine arch, a short neck and other appearance abnormalities. Her hip joint magnetic resonance imaging (MRI) results showed bilateral femoral head epiphyseal dysplasia with a fork\u2010shaped malformation at the distal end, and her brain MRI showed white matter myelin dysplasia. HSPA9<\/jats:italic> compound heterozygous variants c.882_c.883delAG and c.613A>G were identified by exome sequencing.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>This finding expands the spectra of EVEN\u2010plus syndrome phenotype and pathogenic variants and suggests that c.882_c.883delAG may have a higher distribution frequency in East Asian populations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2039","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T09:14:46Z","timestamp":1662110086000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identifying patients with EVEN<\/scp>\u2010plus syndrome using exome sequencing and clinical feature analysis: A case report"],"prefix":"10.1002","volume":"10","author":[{"given":"Hua\u2010Wei","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Henan University of Traditional Chinese Medicine Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5282-455X","authenticated-orcid":false,"given":"Bing\u2010Xiang","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Henan University of Traditional Chinese Medicine Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya\u2010Min","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Henan University of Traditional Chinese Medicine Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Henan University of Traditional Chinese Medicine Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue\u2010Yuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Henan University of Traditional Chinese Medicine Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"issue":"7","key":"e_1_2_12_2_1","first-page":"561","article-title":"Epiphyseal, vertebral, and ear (EVE) dysplasia: A new syndrome?","volume":"36","author":"Amiel J.","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0117170"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/348137a0"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jpcb.9b00071"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep17154"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/371768a0"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61808"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2039","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.2039","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2039","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T12:38:44Z","timestamp":1692621524000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,2]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1002\/mgg3.2039"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2039","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2022,9,2]]},"assertion":[{"value":"2022-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2039"}}