患儿王××,女,12岁,足月顺产第二胎,父母非近亲结婚,无家族史,为矫正斜视而就诊。体格检查如下: 一般情况:智力尚好,肢体瘦长,尤其是手指、脚趾呈蜘蛛爪样特别细长(中指9.5公分),全身肌肉发育不良。皮下脂肪菲薄,体重25公斤。身高155公分。胸廓呈舟状明显凹陷。心脏心电图检查:窦性心律,电轴左偏-68°。左房负荷过重,右室肥大, Children Wang × ×, female, 12 years old, full-term second trimester, parents marry non-relatives, no family history, treatment for strabismus correction. Physical examination are as follows: General situation: Intelligence is still good, limbs and thin, especially the fingers, toes were spider claw-like slenderness (middle finger 9.5 cm), the whole body muscular dysplasia. Subcutaneous fat meager weight 25 kg. Height 155 cm. Thorax was significantly concave boat. Cardiac electrocardiogram: sinus rhythm, left-axis deviation -68 °. Left atrial overload, right ventricular hypertrophy,