中文摘要：

Tricho-rhino-phalangeal 症候群(TRPS ) 首先在 1966 被报导。尽管 TRPS1 基因的变化被认为为在 2000 的症候群负责，骨头新陈代谢的调查和浆液的变化在这种病人的像胰岛素的生长因素(IGF )-1 水平是稀罕的。这里，我们与 TRPS 报导一个病人我(MIM 190350 ) 介绍一个新奇变化(1096insA ) 和严重骨质疏松症以及低浆液 IGF-I 水平的反常变化。

英文摘要：

Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor （IGF）-1 level in this kind of patients is rare. Here, we report a patient with TRPS I （MIM 190350） presenting a novel mutation （1096insA） and abnormal changes of severe osteoporosis as well as low serum IGF-I level.