A rare presentation of Patau syndrome with complex congenital anomalies - A case report

Patau syndrome is a rare and complex genetic condition caused by an extra copy of chromosome 13. We report a case of a 3-day-old female infant with Patau syndrome, presenting with multiple congenital anomalies. The genetic study was positive and the infant was managed with supportive care, including oxygen therapy, orogastric feeds, and intravenous antibiotics and discharged with medications for pulmonary artery hypertension and congestive heart failure. This case highlights the importance of early diagnosis and supportive care for infants with Patau syndrome.