Radford D J, Thong Y H
Department of Cardiology, Prince Charles Hospital, Queensland, Australia.
Int J Cardiol. 1989 Feb;22(2):229-39. doi: 10.1016/0167-5273(89)90072-7.
Dysmorphic facial features were present in 9 of 31 children with tetralogy of Fallot anatomy (29%). These anomalies included hypertelorism, low-set ears, small mouth, short philtrum, and micrognathia. Ten children had pulmonary atresia, 13 (42%) had a right aortic arch, and 13 had extracardiac congenital anomalies. There were 16 children in the series (52%) who had hospital admissions for important or recurrent infections, and 18 who had immune deficiency: low levels of T lymphocytes were found in 9, low levels of complement in 8, and low immunoglobulins in 3. Embryologically, the cardiac outflow tracts, the aortic arch, the face, and the thymus develop at the same time, and all receive migrating cells from the neural crest. Teratogenic factors possibly produce this constellation of anomalies, which is in the spectrum of the Di George syndrome (third and fourth pharyngeal pouch syndrome). It is of importance for the management of such children, that their immune deficiency be recognized and treated appropriately.
31例法洛四联症患儿中有9例（29%）存在面部畸形特征。这些异常包括眼距增宽、低位耳、小嘴、人中短和小颌。10例患儿有肺动脉闭锁，13例（42%）有右位主动脉弓，13例有心脏外先天性异常。该系列中有16例患儿（52%）因严重或反复感染入院，18例有免疫缺陷：9例T淋巴细胞水平低，8例补体水平低，3例免疫球蛋白水平低。从胚胎学角度看，心脏流出道、主动脉弓、面部和胸腺同时发育，且均接受来自神经嵴的迁移细胞。致畸因素可能导致了这一系列异常，这属于迪格奥尔格综合征（第三和第四咽囊综合征）的范畴。对于这类患儿的管理而言，认识到他们的免疫缺陷并进行适当治疗非常重要。
