Henriksen N T, Langmark F, Sorland S J, Fausa O, Landaas S, Aagenaes O
Acta Paediatr Scand. 1977 Jan;66(1):7-15. doi: 10.1111/j.1651-2227.1977.tb07801.x.
A syndrome consisting of chronic intrahepatic cholestasis with retention of bile acids but with normalization of bile pigment excretion ahd blood lipids, peripheral pulmonary stenosis, vertebral anomalies and a characteristic facies is described in six patients, including a father and his daughter. An autosomal dominant mode of inheritance is suggested.
本文描述了6例患者（包括一位父亲及其女儿）所患的一种综合征，其特征为慢性肝内胆汁淤积伴胆汁酸潴留，但胆汁色素排泄和血脂正常，同时伴有外周肺动脉狭窄、椎体异常及特征性面容。提示为常染色体显性遗传模式。
