{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:48:23Z","timestamp":1792144103136,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2022\/05126\u20101"],"award-info":[{"award-number":["2022\/05126\u20101"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["311904\/2025\u20104"],"award-info":[{"award-number":["311904\/2025\u20104"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["304684\/2023\u20106"],"award-info":[{"award-number":["304684\/2023\u20106"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Van Maldergem syndrome (VMLDS) is an ultra\u2010rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in\n                    <jats:italic>DCHS1<\/jats:italic>\n                    or\n                    <jats:italic>FAT4<\/jats:italic>\n                    genes. Fewer than 20 molecularly confirmed cases of VMLDS have been reported, and only a small subset involves\n                    <jats:italic>DCHS1<\/jats:italic>\n                    . We report a Brazilian male patient presenting with clinical features consistent with VMLDS, including neonatal hypotonia, Pierre Robin sequence, craniofacial dysmorphisms, camptodactyly, interphalangeal webbing, joint laxity, and hydrocephalus. Whole\u2010exome sequencing identified a novel homozygous nonsense variant NM_003737.4(\n                    <jats:italic>DCHS1<\/jats:italic>\n                    ):c.9655A&gt;T:p.(Lys3219Ter), located in the final coding exon, classified as likely pathogenic. This report contributes to the phenotypic and molecular characterization of this ultra\u2010rare disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70333","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:20:53Z","timestamp":1792142453000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Homozygous Nonsense Variant in\n                    <scp>\n                      <i>DCHS1<\/i>\n                    <\/scp>\n                    in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review"],"prefix":"10.1002","author":[{"given":"Gabriela Rold\u00e3o","family":"Correia\u2010Costa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3510-113X","authenticated-orcid":false,"given":"Bruna Fagundes Rodrigues","family":"Alaite","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil\u2010da\u2010Silva\u2010Lopes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine, School of Medical Sciences Universidade Estadual de Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.24911\/SJP.106-1554459680","article-title":"Coexistence of Genetic Conditions: Exploring a Possible Relationship","volume":"19","author":"Alaqeel B.","year":"2019","journal-title":"Sudanese Journal of Paediatrics"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.70159"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2765"},{"key":"e_1_2_12_5_1","unstructured":"ClinGen.2025.\u201cSequence Variant Interpretation Working Group (SVI) Recommendations for ACMG\/AMP Guideline Criteria Code Modifications.\u201dAccessed May 1 2026.https:\/\/clinicalgenome.org\/working\u2010groups\/sequence\u2010variant\u2010interpretation\/. (Accessed on May 2026)."},{"key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1002\/ajmg.a.61178","article-title":"Intestinal Lymphangiectasia\u2014A Novel Finding in Van Maldergem Syndrome Challenging the Role of Lymphedema for the Distinction From Hennekam Syndrome","volume":"179","author":"Meij T. G. J.","year":"2019","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010021\u201001010\u2010x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1002\/ajmg.a.38652","article-title":"Van Maldergem Syndrome and Hennekam Syndrome: Further Delineation of Allelic Phenotypes","volume":"176","author":"Ivanovski I.","year":"2018","journal-title":"American Journal of Medical Genetics. 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