Hunter A G, Martsolf J T, Baker C G, Reed M H
Hum Genet. 1978 Feb 16;40(3):311-24. doi: 10.1007/BF00272192.
This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal elastic recoil. The bones are osteoporotic and susceptible to fractures, particularly the vertebrae, which show compression with anterior wedging and biconcavity. The findings in the present families are compared with those in the originally reported family. There was a high degree of consanguinity between the parents in both of the present families and the previous hypothesis of X-linked inheritance is questioned.
本文描述了两个家庭，其中四个男孩和两个女孩患有骨质发育不全性皮肤病。该综合征的主要特征包括面容下垂、有双下巴、过早衰老，之前的作者将其比作沃尔特·迪斯尼《白雪公主》中的小矮人。此外，他们的皮肤缺乏正常的弹性回缩。骨骼骨质疏松，易发生骨折，尤其是脊椎，表现为椎体压缩、前缘楔形变和双凹形。将目前这两个家庭的研究结果与最初报道的家庭的结果进行了比较。目前这两个家庭的父母之间都有高度近亲关系，对之前的X连锁遗传假说提出了质疑。
