1例Costello综合征的临床表现

Objective: To observe the clinical characteristics of Costello syndrome. Methods：the clinical characteristics and gene mutation types of one child with Costello syndrome were analyzed. The key words of Costello syndrome, Costello syndrome and HRAS were searched and analyzed. Results: all the children showed some special facial features, growth retardation and heterozygous mutation of HRAS gene. After diagnosis, all patients were treated with growth hormone and medical treatment. It was found that the clinical characteristics of Costello syndrome reported at home and abroad were similar to the child in our case. The main clinical manifestations of Costello syndrome were special features, heart system disease, short stature and mental retardation, with tumor susceptibility. Conclusion: the incidence rate of Costello syndrome is extremely low, involving multiple system diseases. Special signs and HRAS gene sequencing are helpful for the diagnosis of the disease.