A one-year and two-month old girl indicated large head circumference, widely spaced eyes, narrow palpebral fissures, strabismus on the right eye, broad and low nasal bridge and low-set ears. She had knee over extension and foot eversion on both sides while standing with help. She also had hypotonia and was not able to stand or walk independently. She can say "ma ma" unconsciously. In the neuropsychological developmental assessment, delayed development was shown on gross motor function, fine movement, adaptive capacity, speech and social behavior function. A de novo heterozygous mutation, c.3872G>A(p.G1291D), likely pathogenic, was detected in the CHD3 gene via the next generation sequencing. Snijders Blok-Campeau syndrome was confirmed. It is an extremely rare disease with only 60 cases reported globally. This case expands the CHD3 gene mutation sites and suggests that rare diseases need to be considered and genetic tests should be performed in children with intellectual developmental delay and abnormal facial features, so as to help early diagnosis. Citation.

中文翻译：

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CHD3基因突变引起的Snijders Blok-Campeau综合征：病例报告。

一个一岁两个月大的女孩，头围大，眼睛间距大，眼睑裂窄，右眼斜视，鼻梁宽而低，耳朵低。她在帮助下站立时，双膝伸直，双脚外翻。她还患有肌张力减退，无法独立站立或行走。她会不自觉地说出“妈妈”。在神经心理发育评估中，粗大运动功能、精细动作、适应能力、言语和社会行为功能显示发育迟缓。通过下一代测序在 CHD3 基因中检测到一个可能致病的从头杂合突变 c.3872G>A(p.G1291D)。Snijders Blok-Campeau 综合征得到证实。这是一种极为罕见的疾病，全球仅报告了 60 例。该病例扩大了CHD3基因突变位点，提示智力发育迟缓、五官异常的儿童需要考虑罕见病，进行基因检测，以帮助早期诊断。引文。