1岁2月龄女性患儿，体检发现头围大，眼距宽，睑裂小，右眼外斜视，鼻梁宽而低平，耳位低，扶站双膝稍过伸，双足外翻，四肢肌张力偏低，不能独站独走，会无意识喊“妈妈”。0~6岁儿童神经心理发育检查提示大运动、精细动作、适应能力、语言、社交行为均落后于同龄儿童。全外显子组检测发现CHD3基因存在新发可能致病性杂合突变c.3872G>A(p.G1291D)，最终确诊为Snijders Blok-Campeau综合征。该病极为罕见，全球仅60余例报告。该病例扩展了CHD3基因的突变位点，并提示临床医生对于智力运动发育落后伴有面容异常的儿童，需想到罕见病可能并行遗传学检查，以尽早明确诊断。 引用格式:
Abstract
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:
关键词
Snijders Blok-Campeau综合征 /
CHD3基因 /
发育落后 /
儿童
Key words
Snijders Blok-Campeau syndrome /
CHD3 gene /
Developmental delay /
Child
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参考文献
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