患儿,女,第八胎,七个月。因咳嗽发烧来院就医。患儿自出生后四肢指趾细长,体形细高,关节松驰,肌肉软弱无力,双侧眶嵴及颧骨突出,双耳廓肥大,瞳孔小如针尖,鸡胸,双足外翻。其外祖母、舅父及长兄均有类似本病体征。体检:身高78cm,上部44cm,下部34cm,体重6kg,指距71cm ,营养差,面容憔悴,智力一般,呼吸稍急,口唇轻度发绀,头发黄而稀少,面部皮下脂肪少,浅在淋巴结不肿大,头扁,面窄而长,眶上嵴及颧骨突出,双侧角膜增大,直径12.5—13mm, Children, women, the eighth child, seven months. To hospital for cough and fever. Children after birth, toe slender legs, tall and thin, loose joints, muscle weakness, bilateral orbital crest and prominent cheekbones, double pinnacle hypertrophy, small pupil tip, chicken breast, feet eversion. His grandmother, uncle and elder brother have similar signs of the disease. Physical examination: height 78cm, the upper 44cm, the lower 34cm, weight 6kg, finger pitch 71cm, poor nutrition, gaunt, intellectual general, breathing a little urgency, lips mild cyanosis, hair yellow and sparse, facial subcutaneous fat less shallow in the lymph nodes Swollen, head flat, face narrow and long, superior orbital crest and prominent cheekbones, bilateral corneal enlargement, diameter 12.5-13mm,