女,10岁。因生长发育迟缓而就诊。患儿1岁9个月才能叫“爸爸”,“妈妈”,2岁才能独走,但至今仍不能唱歌及说较复杂的句子,亦不能进行简单计算,不能自己进食,小便无特殊气味。第二胎,足月平产,既往无高热及抽搐史,母孕期体健,无服药史,家族中无类似病史,父母非近亲婚配。体查:身 Female, 10 years old. Due to growth retardation and treatment. Children aged 1 to 9 can be called “father” and “mother” only to be able to walk alone after 2 years of age. However, they still can not sing and say more complicated sentences. They can not make simple calculations and can not eat on their own and have no special smell of urine. The second child, full-term, without previous history of fever and convulsions, physical health during pregnancy, no medication history, no similar family history, parents non-relatives of marriage. Physical examination: body