点状软骨发育不良，胫骨-掌骨型

定义 英文原文（暂无中文）

A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.

基本事实

遗传方式

未知

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接