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我们在婚前遗传咨询中发现1例Kniest病,报告如下:先证者周某,女性,20岁,门诊号75049。患者自幼发现胸背部畸形并伴有腭裂,无家族史,父母非近亲通婚。体检:营养状况一般,身高146cm,体重31kg。智力正常。面平坦,轻度巨头,眼距增宽,前额变平,眼眶变浅,近视,轻度突眼。听力正常,口大,腭裂、悬雍垂裂,不伴唇裂。两侧锁骨不对称,左侧突出,右侧低平。躯干短,胸廓不对称,左胸稍隆起,右胸下陷。脊柱侧突、后
We found a case of Kniest disease in prenatal genetic counseling, the report is as follows: proband Zhou, female, 20 years old, outpatient number 75049. Patients found chest and back deformities associated with cleft palate, no family history, parents of non-relatives of marriage. Physical examination: general nutritional status, height 146cm, weight 31kg. Mental normal. Flat surface, mild giants, widening eyes, forehead flattened, orbital shallow, myopia, mild exophthalmos. Normal hearing, mouth, cleft palate, uvula split, not with cleft lip. Asymmetric clavicles on both sides, prominent on the left, low on the right. Short torso, thorax asymmetry, left chest slightly elevated, right chest subsidence. Scoliosis, after