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病历摘要患儿男,2天。因口周青紫1天来诊。2胎2产,足月顺产。产后1天阵发性口周发青,不会吃奶,不发热,无咳嗽和气喘。父母非近亲结婚,母孕早期曾患“感冒”。患儿之姐体健无遗传性疾病。体格检查:发育营养差,不哭,前囟3.5×3.5cm,后囟3×3cm,平坦,矢状缝2cm。面容特殊,双眼裂小,瞳孔直径约1mm,双眼白内障,鼻骨高,鼻孔小,下颌小,高腭弓,无腭裂,舌下垂,口唇粘膜及口周发绀。胸廓对称,胸骨凹陷,心率110次/分,节律规则,未闻及杂音,双肺呼吸音粗糙。脊柱轻度侧弯。阴茎细小,长约1cm,阴囊内无睾丸,会阴部轻
Summary of medical records in children male, 2 days. Due to perioral bruising 1 day visit. 2 tires 2, full-term delivery. 1 day postpartum Paroxysmal perioral hair blue, not feeding, no fever, no cough and asthma. Parents non-relatives get married, pregnant mother had “cold” early. Children’s sister body health no genetic disease. Physical examination: poor nutrition, no cry, anterior fontanel 3.5 × 3.5cm, posterior fontanel 3 × 3cm, flat, sagittal suture 2cm. Face special, small eyes, pupil diameter of about 1mm, binocular cataracts, nasal high, small nostrils, small mandibular, high palatal arch, no palate, tongue drooping, oral mucosa and perioral cyanosis. Thorax symmetry, sternum depression, heart rate 110 beats / min, rhythm rules, no smell and noise, rough breathing sounds of both lungs. Slight curvature of the spine. Penis small, about 1cm, no testicles within the scrotum, perineal light