{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:54:41Z","timestamp":1753890881582,"version":"3.41.2"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"Background<\/jats:title>Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.<\/jats:p><\/jats:sec>Methods<\/jats:title>We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA). Whole-exome sequencing, performed using the Illumina NextSeq platform. We extensively analyzed over 100 genes linked to congenital structural heart diseases.<\/jats:p><\/jats:sec>Results<\/jats:title>The genetic findings provided a definitive diagnosis of Craniofacial-Deafness-Hand Syndrome, an extremely rare autosomal dominant condition, but found no variants that explain the patient\u2019s cardiac phenotype. We identified a novel pathogenic missense variant in the PAX3<\/jats:italic> gene (c.A91C, p. T31P).<\/jats:p><\/jats:sec>Discussion and conclusions<\/jats:title>This case underscores the necessity of integrating genetic testing into routine clinical practice to enhance diagnostic precision for rare diseases. It also highlights the need for multidisciplinary collaboration and a holistic care model to improve patient outcomes. The unique association of Craniofacial-Deafness-Hand Syndrome with cardiovascular anomalies due to a PAX3<\/jats:italic> variation provides valuable insights into the genetic underpinnings of this rare condition.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2024.1354632","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T07:06:06Z","timestamp":1736233566000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care"],"prefix":"10.3389","volume":"15","author":[{"given":"Samantha","family":"Saenz Hinojosa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Reyes-Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuyoshi","family":"Hosomichi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa I.","family":"Romero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e025784","DOI":"10.1161\/JAHA.122.025784","article-title":"Patent ductus arteriosus: a contemporary perspective for the pediatric and adult cardiac care provider","volume":"11","author":"Backes","year":"2022","journal-title":"J. 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