Otopalatodigital症候群II型：症例報告

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.