Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive of basepairs 2094861_2141830 (hg19) in our patient. This case highlights a child with Nicolaides–Baraiter syndrome, a SMARCA2 gene deletion and a novel association of hypertrophic obstructive cardiomyopathy.

Nicolaides-Baraitser 综合征是一种罕见的神经发育障碍，由SMARCA2基因中的杂合致病变异引起，与染色质调节有关。主要特征包括智力障碍、身材矮小、小头畸形、三角面容、稀疏头发、短指、突出的指间关节和癫痫发作。在我们的患者中，基因检测显示SMARCA2在 9p24.3 包括碱基对 2094861_2141830 (hg19) 的缺失。该病例突出了一名患有 Nicolaides-Baraiter 综合征、SMARCA2基因缺失和肥厚性梗阻性心肌病的新关联的儿童。