PDF(Pubmed)
Abstract：
UNASSIGNED: Sotos Syndrome (SS, OMIM#117550) is a heterogeneous genetic condition, recognized by three main clinical features present in most cases: overgrowth with macrocephaly, typical facial appearance and different degrees of intellectual disability. Three different types are described caused by variants or deletions/duplications in NSD1, NFIX and APC2 genes. We aimed to describe a cohort of pediatric patients reporting the typical and unexpected findings in order to expand the phenotype of this syndrome and trying to find genotype-phenotype correlations.
UNASSIGNED: In our referral center, we collected and analyzed clinical and genetic data of 31-patients cohort diagnosed with SS.
UNASSIGNED: All of them presented with overgrowth, typical dysmorphic features and different degree of developmental delay. Although structural cardiac defects have been reported in SS, non-structural diseases such as pericarditis were outstanding in our cohort. Moreover, we described here novel oncological malignancies not previously linked to SS such as splenic hamartoma, retinal melanocytoma and acute lymphocytic leukemia. Finally, five patients suffered from recurrent onychocryptosis that required surgical procedures, as an unreported prevalent medical condition.
UNASSIGNED: This is the first study focusing on multiple atypical symptoms in SS at the time that revisits the spectrum of clinical and molecular basis of this heterogeneous entity trying to unravel a genotype-phenotype correlation.
UNASSIGNED: In our referral center, we collected and analyzed clinical and genetic data of 31-patients cohort diagnosed with SS.
UNASSIGNED: All of them presented with overgrowth, typical dysmorphic features and different degree of developmental delay. Although structural cardiac defects have been reported in SS, non-structural diseases such as pericarditis were outstanding in our cohort. Moreover, we described here novel oncological malignancies not previously linked to SS such as splenic hamartoma, retinal melanocytoma and acute lymphocytic leukemia. Finally, five patients suffered from recurrent onychocryptosis that required surgical procedures, as an unreported prevalent medical condition.
UNASSIGNED: This is the first study focusing on multiple atypical symptoms in SS at the time that revisits the spectrum of clinical and molecular basis of this heterogeneous entity trying to unravel a genotype-phenotype correlation.
摘要：
■Sotos综合征（SS，OMIM#117550)是一种异质性遗传条件，在大多数情况下，存在三个主要临床特征：过度生长与大头畸形，典型的面部外观和不同程度的智力残疾。描述了由NSD1、NFIX和APC2基因中的变体或缺失/重复引起的三种不同类型。我们旨在描述一组报告典型和意外发现的儿科患者，以扩大该综合征的表型并试图找到基因型-表型相关性。
■在我们的转诊中心，我们收集并分析了31例确诊为SS患者的临床和遗传学数据.
■所有这些都呈现过度生长，典型的畸形特征和不同程度的发育延迟。尽管在SS中已经报道了结构性心脏缺陷，非结构性疾病如心包炎在我们的队列中表现突出.此外，我们在这里描述了以前与SS无关的新型肿瘤恶性肿瘤，例如脾错构瘤，视网膜黑色素细胞瘤和急性淋巴细胞白血病。最后,五名患者患有复发性甲癣，需要外科手术，作为一种未报告的普遍医疗状况。
■这是第一项研究，重点是当时SS中的多种非典型症状，该研究重新审视了这种异质性实体的临床和分子基础，试图揭示基因型-表型相关性。
■在我们的转诊中心，我们收集并分析了31例确诊为SS患者的临床和遗传学数据.
■所有这些都呈现过度生长，典型的畸形特征和不同程度的发育延迟。尽管在SS中已经报道了结构性心脏缺陷，非结构性疾病如心包炎在我们的队列中表现突出.此外，我们在这里描述了以前与SS无关的新型肿瘤恶性肿瘤，例如脾错构瘤，视网膜黑色素细胞瘤和急性淋巴细胞白血病。最后,五名患者患有复发性甲癣，需要外科手术，作为一种未报告的普遍医疗状况。
■这是第一项研究，重点是当时SS中的多种非典型症状，该研究重新审视了这种异质性实体的临床和分子基础，试图揭示基因型-表型相关性。
