一名患有迟发性脊椎骨骺发育不良的成年女性。

Connor J M, Evans D A, Sardharwalla I B

J Med Genet. 1982 Jun;19(3):234-6. doi: 10.1136/jmg.19.3.234.

We report a sporadic adult female with a distinctive variety of spondyloepiphyseal dysplasia tarda characterised by universal platyspondyly, short metacarpals, short metatarsals, genu valgum, mild thoracic kyphoscoliosis, and severe generalised epiphyseal distortion with premature osteoarthrosis.

我们报告了一名散发的成年女性，患有迟发性脊椎骨骺发育不良的一种独特类型，其特征为全身扁平椎、掌骨短、跖骨短、膝外翻、轻度胸椎后凸侧弯以及严重的广泛性骨骺畸形并伴有早发性骨关节炎。