Pauly-Laubry C, Forman J, Daussy M, Maurice P
Arch Mal Coeur Vaiss. 1977 Apr;70(4):405-9.
Two related cases are reported, those of two sisters aged 7 and 13, who had an aortic subvalvular stenosis in the form of a fibro-muscular channel, associated with mitral incompetence, a triangular facies with a pointed chin, pinched lips, a divergent squint, hypertelorism, a mask-like face, normal intelligence, and a peripheral muscular disorder with arthrogriposis. The description of such a combination of malformations is original, and this is discussed.
报告了两例相关病例，患者为两名姐妹，年龄分别为7岁和13岁，她们患有纤维肌性通道形式的主动脉瓣下狭窄，并伴有二尖瓣关闭不全、三角脸伴尖下巴、嘴唇紧绷、斜视、眼距过宽、面具脸、智力正常以及伴有关节挛缩的周围肌肉疾病。对这种畸形组合的描述是首次出现，并对此进行了讨论。
