伴有明显扁平椎和独特外周异常的骨软骨发育不良。

Osteochondrodystrophies with marked platyspondyly and distinctive peripheral anomalies.

作者信息

Kozlowski K, Bieganski T, Gardner J, Beighton P

机构信息

Royal Alexandra Hospital for Children, Hawkesbury Road, Westmead 2145, Sydney, Australia.

出版信息

Pediatr Radiol. 1999 Jan;29(1):1-5. doi: 10.1007/s002470050522.

DOI:10.1007/s002470050522

PMID:9880606

Abstract

Two patients with a unique generalised bone dysplasia demonstrating severe distinctive platyspondyly are reported. This group of crippling disorders defies metabolic and histological classification. The radiographic examination is, at present, the only practical method of documentation of these rare disorders.

摘要

报告了两名患有独特的全身性骨发育异常并表现出严重且独特扁平椎的患者。这组致残性疾病难以进行代谢和组织学分类。目前，影像学检查是记录这些罕见疾病的唯一实用方法。