Abstract：
Sotos syndrome is an uncommon congenital overgrowth syndrome characterized by excessive growth in childhood, learning disabilities, and distinct facial features. We present the case of a young male who appeared to have the classic presentation of Sotos syndrome despite a normal genetic workup. Additionally, we present a brief review of overgrowth syndromes in order to highlight potential challenges differentiating these syndromes in clinical practice. Many overgrowth disorders often have similar presentation to Sotos syndrome, so it is important to recognize and identify specific clinical features and perform genetic testing to rule out other disorders, confirm a diagnosis, and choose the appropriate management for patients.
摘要：
Sotos综合征是一种罕见的先天性过度生长综合征，其特征是儿童期过度生长。学习障碍,和独特的面部特征。我们介绍了一个年轻男性的病例，尽管进行了正常的遗传检查，但他似乎具有Sotos综合征的经典表现。此外,我们对过度生长综合征进行了简要回顾,以强调在临床实践中区分这些综合征的潜在挑战.许多过度生长障碍通常具有与Sotos综合征相似的表现，因此，识别和确定特定的临床特征并进行基因检测以排除其他疾病非常重要，确认诊断，并为患者选择合适的管理方法。
