{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T03:54:41Z","timestamp":1771905281541,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T00:00:00Z","timestamp":1716940800000},"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":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bosma arhinia microphthalmia syndrome (BAMS, OMIM #603457) is a rare autosomal dominant disorder caused by heterozygous variation in the <jats:italic>SMCHD1<\/jats:italic> gene on chromosome 18p11. Clinically, it is characterized by microphthalmia, absence or hypoplasia of nose, choanal atresia, anosmia, palatal abnormalities, hypogonadotropic hypogonadism, and cryptorchidism. Here we report a Brazilian patient with a likely pathogenic variation in <jats:italic>SMCHD1<\/jats:italic> gene (c.1418A&gt;T; p.Glu473Val) presenting hemiarhinia associated with short stature and hypogonadotropic hypogonadism. Due to the clinical variability of BAMS, we considered that hemiarhinia, without microphthalmia, in the present case, can be considered a mild form of BAMS and could be considered for screening of <jats:italic>SMCHD1<\/jats:italic> gene variation.<\/jats:p>","DOI":"10.1002\/ajmg.a.63640","type":"journal-article","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T12:19:37Z","timestamp":1716985177000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hemiarhinia caused by a missense variation in <scp><i>SMCHD1<\/i><\/scp>: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0252-5452","authenticated-orcid":false,"given":"Nancy Mizue","family":"Kokitsu\u2010Nakata","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"},{"name":"Craniofacial Team Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinicius Contrucci Dantas","family":"Segarra","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiano","family":"Tonello","sequence":"additional","affiliation":[{"name":"Craniofacial Team Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele Madeira","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Craniofacial Team Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1532-9610","authenticated-orcid":false,"given":"Nivaldo","family":"Alonso","sequence":"additional","affiliation":[{"name":"Craniofacial Team Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S\u00e3o Paulo (USP)  Bauru Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2020.110083"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000005091"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1715620"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000101"},{"issue":"2","key":"e_1_2_8_6_1","first-page":"153","article-title":"Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males","volume":"1","author":"Bosma J. 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