Shen-Schwarz S, Fitko R
Department of Pathology, Children's Memorial Hospital, Chicago, Illinois 60614.
Am J Med Genet. 1990 Aug;36(4):451-5. doi: 10.1002/ajmg.1320360416.
The syndrome of hereditary multiple gastrointestinal atresias is characterized by multiple and widespread atresias from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal course with an autosomal recessive mode of inheritance. We review 18 cases reported in the literature and one additional case in an infant with imperforate anus. The anatomical and histological characteristics of the atresias suggest a failure of recanalization of the embryonic intestinal lumen. The association between multiple atresias and imperforate anus supports the hypothesis that this disorder is a malformation syndrome caused by a defect in the development of the gastrointestinal tract.
遗传性多发性胃肠道闭锁综合征的特征为从幽门到直肠的多发性广泛性闭锁、腹部平片上的腔内钙化，以及常染色体隐性遗传模式下的必然致命病程。我们回顾了文献报道的18例病例以及另外1例患有肛门闭锁的婴儿病例。闭锁的解剖学和组织学特征提示胚胎肠腔再通失败。多发性闭锁与肛门闭锁之间的关联支持了这一假说，即该病症是由胃肠道发育缺陷引起的一种畸形综合征。
