Kozlowski Kazimierz, Godlonton John, Gardner Jessica, Beighton Peter
Department of Medical Imaging, New Children's Hospital, Sydney, Australia.
Clin Dysmorphol. 2002 Jul;11(3):203-8. doi: 10.1097/00019605-200207000-00011.
We describe two new cases of a rare form of lethal chondrodysplasia punctata (so-called X-linked dominant, non-rhizomelic form), a condition characterized by widespread multicentric stippled calcifications of the cartilaginous parts of the long bones, spine, ribs and flat bones. The mother of one of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. We suggest that a skeletal survey, including lateral view of the spine, together with biochemical studies of peroxisomal status are indicated in all newborns with severe, unusual forms of chondrodysplasia punctata. In this way, accurate categorization of the lethal, non-rhizomelic types of this condition will be facilitated.
我们描述了两例罕见的致死性点状软骨发育不良（所谓的X连锁显性、非肢体短小型）的新病例，该病的特征是长骨、脊柱、肋骨及扁骨的软骨部分出现广泛多中心的点状钙化。其中一名患者的母亲患有与X连锁显性点状软骨发育不良相符的骨发育异常。我们建议，对于所有患有严重、不寻常类型点状软骨发育不良的新生儿，均应进行包括脊柱侧位片在内的骨骼检查，以及过氧化物酶体状态的生化研究。这样将有助于对此病致死性、非肢体短小类型进行准确分类。
