Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical findings of patients with Sotos syndrome. Sixteen patients suspected to have Sotos syndrome with clinical findings were examined retrospectively, ranging in ages between 3 and 23. In our file screening, we screened the FISH results of all 16 patients, but not all patients had NSD1 gene analysis results. We collected NSD1 gene analysis results, if there were any. The parameters that we investigated for these patients are birth weight, birth length, Apgar score at the 5th minute, dysmorphological face appearance, bone age, seizure, learning disability, feeding difficulties, surgical operation, and other accompanying abnormalities (brain MRI, abnormal echocardiographic findings, chronic otitis media, etc.). The anamnesis, clinical examination findings, and genetic reports of the patients were examined. For this, the hospital registration system was used. Breech presentation, Apgar score in the 5th minute of between 4 and 7, atrial septal defect at echocardiography, and consanguineous marriage rate were detected to be increased in individuals with Sotos syndrome compared to the normal population. When compared to the general population, delayed psychomotor development was determined. Macrocephaly, increased bone age, chronic otitis media frequency, and hernia operation frequency were determined to see if all patients were consistent with the literature. As a result of NSD1 gene sequencing analyses (NSD1 gene analysis was performed in 6 patients and a mutation was detected in 3 of them), three were found to have NSD1 gene mutation (one of them was novel). A novel deletion-type mutation that was not previously reported in the literature in the 19th exon of the NSD1 gene was determined. Xiphoidal protrusion was detected on this patient that had the novel mutation, and this situation has not been reported in the literature previously. If a patient has rapid growth, difficulty in learning, macrocephaly, speech delay, and timid personality, Sotos syndrome can be considered at the pre-diagnosis stage.

Sotos 综合征是一种非进行性神经系统疾病，具有过度生长、骨龄增加和发育迟缓。本研究的目的是评估 Sotos 综合征患者的产前、产后和产后临床表现。对 16 名疑似患有 Sotos 综合征并具有临床表现的患者进行回顾性检查，年龄在 3 至 23 岁之间。在我们的文件筛选中，我们筛选了所有 16 名患者的 FISH 结果，但并非所有患者都有 NSD1 基因分析结果。我们收集了 NSD1 基因分析结果，如果有的话。我们为这些患者调查的参数包括出生体重、出生身长、第 5 分钟的 Apgar 评分、畸形的面部外观、骨龄、癫痫发作、学习障碍、喂养困难、外科手术和其他伴随的异常（脑 MRI、超声心动图异常、慢性中耳炎等）。对患者的病史、临床检查结果和遗传报告进行了检查。为此，使用了医院登记系统。与正常人群相比，Sotos 综合征患者的臀位、第 4 至 7 分钟第 5 分钟的 Apgar 评分、超声心动图的房间隔缺损和近亲结婚率均有所增加。与一般人群相比，确定了延迟的精神运动发育。确定大头畸形、骨龄增加、慢性中耳炎频率和疝气手术频率，看所有患者是否与文献一致。作为 NSD1 基因测序分析的结果（对 6 名患者进行 NSD1 基因分析，其中 3 名检测到突变），三个被发现有 NSD1 基因突变（其中一个是新的）。在 NSD1 基因的第 19 个外显子中确定了一种以前未在文献中报道的新型缺失型突变。在该患者身上检测到剑突突出，具有新的突变，这种情况以前在文献中没有报道过。如果患者生长较快、学习困难、大头畸形、言语迟缓、性格胆小，可在预诊阶段考虑Sotos综合征。而这种情况此前在文献中未见报道。如果患者生长较快、学习困难、大头畸形、言语迟缓、性格胆小，可在预诊阶段考虑Sotos综合征。而这种情况此前在文献中未见报道。如果患者生长较快、学习困难、大头畸形、言语迟缓、性格胆小，可在预诊阶段考虑Sotos综合征。