努南综合症。

M S Daoud, P R Dahl, W P Su
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引用次数: 2

摘要

努南综合征是一种罕见的疾病,其特征是畸形相、身材矮小、耳异常、隐睾、眼异常、心血管异常、肘外翻、颈蹼以及皮肤和毛发异常。约25%至40%的患者有皮肤异常。诊断纯粹是临床,基于囊性水瘤的存在和心肌异常的证据,宫内诊断是非常重要的。治疗是有症状的。遗传咨询是必要的。
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Noonan syndrome.

The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and hair abnormalities. Some 25% to 40% of patients have dermatologic abnormalities. Diagnosis is purely clinical, and intrauterine diagnosis is very important based on the presence of cystic hygroma and evidence of myocardial abnormalities. Treatment is symptomatic. Genetic counseling is necessary.

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