脊椎骨骺发育不良

J Med Genet. 1983 Apr;20(2):117-21.

Skeletal dysplasia with autosomal dominant inheritance was found in four members of one family and in one sporadic case. The syndrome comprises brachydactyly E, platyspondyly, abnormality of the sacroiliac joint, disturbance of metaphyseal modelling, epiphyseal dysplasia, and short stature. This study deals with a particular type of spondyloepiphyseal dysplasia and compares it with similar cases in two previously published papers.

在一个家族的四名成员和一例散发病例中发现了具有常染色体显性遗传的骨骼发育异常。该综合征包括短指（趾）E型、椎体扁平、骶髂关节异常、干骺端塑形障碍、骨骺发育异常和身材矮小。本研究探讨了一种特殊类型的脊椎骨骺发育异常，并将其与两篇先前发表论文中的类似病例进行了比较。