Lourdes Vega-Hanna, Mario Sanz-Cuesta, Didac Casas-Alba, Mercè Bolasell, Loreto Martorell, Leticia Pías, Lucia Feller Ana, Martínez-Monseny Antonio Federico, Mercedes Serrano
Department of Pediatrics, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
Department of Pediatrics, Hospital de Sant Boi, Parc Sanitari Sant Joan de Déu, Barcelona, Spain.
Front Pediatr. 2023 Jun 13;11:1184529. doi: 10.3389/fped.2023.1184529. eCollection 2023.
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 and 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.
In our referral center, we collected and analyzed clinical and genetic data of 31-patients cohort diagnosed with SS.
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.
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.
索托斯综合征（SS，OMIM#117550）是一种异质性遗传疾病，大多数病例具有三个主要临床特征：巨头畸形导致的生长过度、典型的面部外观和不同程度的智力残疾。据描述，该综合征有三种不同类型，由 和 基因的变异或缺失/重复引起。我们旨在描述一组儿科患者，报告其典型和意外的发现，以扩展该综合征的表型，并试图找到基因型与表型的相关性。
在我们的转诊中心，我们收集并分析了31例被诊断为SS的患者队列的临床和基因数据。
所有患者均表现出生长过度、典型的畸形特征和不同程度的发育迟缓。虽然SS中曾报告有结构性心脏缺陷，但在我们的队列中，心包炎等非结构性疾病较为突出。此外，我们在此描述了以前未与SS相关的新型肿瘤性恶性疾病，如脾错构瘤、视网膜黑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嵌甲，需要手术治疗，这是一种未报告的常见病症。
这是第一项关注SS多种非典型症状的研究，同时重新审视了这个异质性实体的临床和分子基础范围，试图揭示基因型与表型的相关性。
