Cox K L, Frates R C, Wong A, Gandhi G
Gastroenterology. 1980 Jun;78(6):1566-70.
A 28-yr-old mother and her 10-year-old daughter with generalized juvenile gastrointestinal polypsis, arteriovenous (AV) malformations of the lung and severe digital clubbing are described. The AV malformations were documented by pulmonary angiography in both subjects, and generalized juvenile polyposis was confirmed histologically and radiographically. Since pulmonary AV malformations associated with juvenile polyposis has not been previously reported, a new hereditary syndrome is proposed.
本文描述了一位28岁的母亲及其10岁女儿，她们患有全身性幼年性胃肠息肉病、肺部动静脉（AV）畸形和严重的杵状指。通过肺部血管造影证实了两位受试者均存在AV畸形，并通过组织学和影像学检查确诊为全身性幼年性息肉病。由于此前尚未报道过与幼年性息肉病相关的肺部AV畸形，因此提出了一种新的遗传性综合征。
