病例 患儿,男,6岁,因身材矮,四肢畸形就诊。患儿于1岁2个月会行走时,表现步态蹒跚,呈鸭步态。后渐出现四肢弯曲,踝、腕关节膨大,下肢粗短,呈“O”形腿。身高明显低于同龄儿,智力发育正常。患儿系第一胎,足月顺产,母孕期无疾病史。父母非近亲婚配。曾于当地医院就诊,疑为“软骨发育不全、粘多糖Ⅳ型”。查体:身高92cm,上部量62cm,下部量30cm,体重15kg,呈短肢型侏儒(见图1)。头面部外观正常,轻度鸡胸,肋缘外翻,心肺未见异常, Case of children, male, 6 years old, due to short stature, limb deformities treatment. Children walking at 1 year and 2 months showed a staggering gait and a duck gait. After the emergence of limb flexion, ankle, wrist enlargement, lower limbs stubby, was “O” -shaped legs. Obviously lower than the same age children, mental development is normal. Children with the first child, term full-term pregnancy, no history of disease during pregnancy. Parents non-relatives marriage. Have visited a local hospital, suspected of “achondroplasia, mucopolysaccharides type Ⅳ.” Physical examination: height 92cm, the upper amount of 62cm, the lower amount of 30cm, weight 15kg, was short-limb dwarf (see Figure 1). Head and face appearance is normal, mild chicken breast, flange marginal valgus, no abnormal heart and lungs,