Qazi Q H, Nangia B S
J Pediatr. 1984 Mar;104(3):391-4. doi: 10.1016/s0022-3476(84)81101-4.
A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.
本文描述了一名10岁男孩及其9岁妹妹，他们存在手足远端指骨异常、甲营养不良、耳聋、智力迟钝、癫痫发作障碍以及皮纹异常的情况。此前已有6例类似病例报告。这8例患者代表了一种新的综合征，其遗传方式为常染色体隐性遗传。
