University of South Dakota Sanford School of Medicine.
University of South Dakota Sanford School of Medicine, Rapid City, South Dakota.
S D Med. 2024 Mar;77(3):129-133.
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.
Sotos 综合征是一种罕见的先天性过度生长综合征，其特征为儿童时期过度生长、学习障碍和独特的面部特征。我们报告了一例年轻男性的病例，尽管基因检查正常，但他表现出典型的 Sotos 综合征。此外，我们还简要回顾了过度生长综合征，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与 Sotos 综合征有相似的表现，因此，重要的是要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，确认诊断，并为患者选择适当的治疗方法。
