Pacman发育不良

定义 英文原文（暂无中文）

A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.

别名

点彩性骨骺综合征-破骨细胞增生综合征

基本事实

遗传方式

常染色体隐性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 10

外部标识与链接