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 in...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.展开更多
基金This study was supported by a grant from the National Natural Science Foundation of China （No. 81000039）.
文摘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.
