El Shafie M, Stidham G L, Klippel C H, Katzman G H, Weinfeld I J
J Pediatr Surg. 1979 Aug;14(4):446-9. doi: 10.1016/s0022-3468(79)80012-3.
Pyloric atresia and epidermolysis bullosa letalis are rare congenital anomalies. The association of the two diseases in siblings has not been reported previously. This paper describes such as association in two newborn infants of caucasian parents with no family history of similar anomalies. Problems in management included severe fluid and electrolyte losses, systemic infection, and prematurity, which led to the death of the two infants. The question is raised whether the two abnormalities are expressions of closely linked genes. The presence of epidermolysis bullosa should alert the pediatrician to the possiblity of a coexisting pyloric atresia.
幽门闭锁和致死性大疱性表皮松解症是罕见的先天性异常。此前尚未有这两种疾病在兄弟姐妹中同时出现的报道。本文描述了一对白人父母所生的两名新生儿出现这种关联的情况，其家族无类似异常病史。治疗过程中出现的问题包括严重的体液和电解质丢失、全身感染以及早产，这些最终导致两名婴儿死亡。文中提出了这两种异常是否是紧密连锁基因的表现这一问题。大疱性表皮松解症的存在应提醒儿科医生注意可能并存的幽门闭锁。
