{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T14:03:21Z","timestamp":1784297001340,"version":"3.55.0"},"reference-count":14,"publisher":"Springer Publishing Company","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2026,2,1]]},"abstract":"<jats:p>Otopalatodigital syndrome type 2 (OPD2) is a rare, typically lethal X-linked congenital disorder associated with craniofacial, skeletal, and visceral malformations. Because of its rarity, each case provides valuable insights into neonatal care, genetic counseling, and anticipatory guidance. A male infant diagnosed prenatally with OPD2 after ultrasound revealed multiple anomalies, and genetic testing confirmed the pathogenic variant. The mutation was de novo, as there was no family history of X-linked inheritance. The infant exhibited cleft palate, skeletal deformities, omphalocele, thoracic hypoplasia, and additional brain and renal anomalies consistent with the lethal phenotype. Intensive neonatal care included respiratory support, nutritional interventions, and multidisciplinary consultations. Despite intensive medical management, the infant remained critically ill. Palliative care was introduced early after admission and played an important role in subsequently assisting with arranging the discharge of the infant home on hospice care. The infant survived 6 weeks postnatally, allowing meaningful time with his family. This case highlights the critical importance of prenatal genetic counseling, early anticipatory guidance, and shared decision making, with palliative care integrated as part of the care continuum. Neonatal nurse practitioners and NICU registered nurses are not only essential members of the multidisciplinary team but also serve as consistent advocates for the infant and the family. Their roles in care coordination, ongoing bedside support, and facilitation of compassionate, family-centered communication are vital in helping parents navigate the complex decisions and emotional challenges that accompany a lethal congenital diagnosis.<\/jats:p>","DOI":"10.1891\/nn-2025-0026","type":"journal-article","created":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T05:45:20Z","timestamp":1772084720000},"page":"18-26","source":"Crossref","is-referenced-by-count":0,"title":["Otopalatodigital Syndrome Type 2: A Case Report"],"prefix":"10.1891","volume":"45","author":[{"given":"Sheron A.","family":"Wagner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"793","published-online":{"date-parts":[[2026,2,25]]},"reference":[{"key":"2026071706150565000_45.1.18.1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201654"},{"key":"2026071706150565000_45.1.18.2","unstructured":"Genetic and Rare Disease Information Center. Otopalatodigital type 2. National Center for Advancing Translational Sciences; Accessed May 12, 2024. https:\/\/rarediseases.info.nih.gov\/diseases\/5802\/otopalitodigital-syndrome-type-2"},{"issue":"3","key":"2026071706150565000_45.1.18.3","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1002\/ajmg.a.33260","article-title":"Mutational analysis of two boys with the severe perinatally lethal Melnick\u2013Needles syndrome","volume":"152A","year":"2010","journal-title":"Am J Med Genetics A"},{"key":"2026071706150565000_45.1.18.4","unstructured":"Robertson, S . X-linked otopalatodigital spectrum disorders. 2005 Nov 30 [updated 2019 Oct 3]. In: Adam, MP , Feldman, J , Mirzaa, GM , et al, eds. GeneReviews\u00ae [Internet]. University of Washington; 1993\u20132024."},{"key":"2026071706150565000_45.1.18.5","unstructured":"Genetic and Rare Diseases Information Center. Otopalatodigital syndrome. National Center for Advancing Translational Sciences; n.d.; Accessed May 12, 2024. https:\/\/rarediseases.info.nih.gov\/diseases\/3402\/otopalatodigital-syndrome"},{"issue":"4","key":"2026071706150565000_45.1.18.6","first-page":"330","article-title":"Otopalatodigital spectrum disorders: nosology and pathogenesis","volume":"145C","year":"2007","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2026071706150565000_45.1.18.7","unstructured":"Robertson, SP , Stevenson, RE , et al. Otopalatodigital spectrum disorders. In: Adam, MP , Ardinger, HH , Pagon, RA , Wallace, SE , et al, eds. GeneReviews\u00ae [Internet]. University of Washington; 2015. https:\/\/pubmed.ncbi.nlm.nih.gov\/20301567"},{"issue":"1","key":"2026071706150565000_45.1.18.8","first-page":"33","article-title":"Otopalatodigital syndrome type 2 in a male infant: a case report with a novel sequence variation","volume":"2","year":"2013","journal-title":"J Pediatr Genet"},{"issue":"3","key":"2026071706150565000_45.1.18.9","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/cge.12679","article-title":"Fetal phenotypes in otopalatodigital spectrum disorders","volume":"89","year":"2016","journal-title":"Clin Genet"},{"issue":"4","key":"2026071706150565000_45.1.18.10","first-page":"855","article-title":"Bifid tongue, corneal clouding, and Dandy\u2013Walker malformation in a male infant with otopalatodigital syndrome type 2","volume":"155A","year":"2011","journal-title":"Am J Med Genet A"},{"key":"2026071706150565000_45.1.18.11","doi-asserted-by":"publisher","DOI":"10.1891\/0730-0832.25.6.421"},{"key":"2026071706150565000_45.1.18.12","unstructured":"Otopalatodigital syndrome type I and II. Accessed October 21, 2025. https:\/\/rarediseases.org\/rare-diseases\/otopalitodigital-syndrome-type-i-and-ii"},{"key":"2026071706150565000_45.1.18.13","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.pedn.2018.01.014","article-title":"Nurse-led discharge in pediatric care: a scoping review","volume":"41","year":"2018","journal-title":"J Pediatr Nurs"},{"issue":"13-S","key":"2026071706150565000_45.1.18.14","first-page":"e2020021","article-title":"Prenatal genetic diagnosis: fetal therapy as a possible solution to a positive test","volume":"91","year":"2020","journal-title":"Acta Biomed"}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/NN-2025-0026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:15:38Z","timestamp":1784294138000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/NN-2025-0026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,2,25]]},"published-print":{"date-parts":[[2026,2,1]]}},"alternative-id":["10.1891\/NN-2025-0026"],"URL":"https:\/\/doi.org\/10.1891\/nn-2025-0026","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"value":"0730-0832","type":"print"},{"value":"1539-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,1]]}}}