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女,3岁。因经常鼻衄、反复皮肤紫癜1年余入院。既往体健。患儿系第1胎,足月顺产,生后无窒息。母孕期体健。家族中无遗传病病史。查体:身高75cm,发育差,营养欠佳,全身皮肤散在大小不等的紫斑,浅表淋巴结未及。头围47.5cm,头型正常,小眼球,鼻呈钩样、鼻翼小而薄、鼻孔轻度外翻,耳位不低,腭裂、发音障碍,牙小而黄、排列不整齐、可见缺失。心肺正常。腹软、肝脾未及。左侧足趾2、3及4、5软组织联合,右侧2、3趾软组织联合。辅助
Female, 3 years old. Due to frequent epistaxis, repeated purpura skin more than 1 year admitted to hospital. Past physical health. Children in the first child, full-term follow-up, postnatal asphyxia. Pregnancy and body health. No history of genetic disease in the family. Physical examination: height 75cm, poor development, poor nutrition, body size scattered scattered in the purple, superficial lymph nodes. Head circumference 47.5cm, normal head, small eyes, nose was hooked, small and thin nose, nose slightly valgus, ear is not low, cleft palate, dysphonia, small teeth and yellow, arranged in neat rows, visible loss. Cardiopulmonary normal. Abdomen soft, liver and spleen not yet. The left toe 2,3 and 4,5 soft tissue, right 2,3 soft tissue joint. Auxiliary