Congenital Heart Defects, Hamartomas of the Tongue, and Polysyndactyly (CHDTHP)
摘要
In the study by Orstavik and colleagues in 1992, they examined a brother and sister from unrelated parents. These siblings presented with congenital heart defects, tongue hamartomas, and polydactyly. They exhibited coarctation of the aorta, which led them to undergo surgical repair early in infancy. Additionally, the girl had an atrioventricular canal and the boy had subaortic stenosis. Unfortunately, the girl died at the age of 4 post-surgery, while the boy died at the age of 2 due to pneumonia. Despite their health challenges, both children experienced normal psychomotor development.