Floating-Harbor综合征1例并文献复习  

Floating-Harbor syndrome: a case report and literature review

作　　者：李荣敏[1] 卢亚超 李珍[1] 王杰英[1] 常洁[1] 雷淑琴[1] 曾俏 桑艳梅 LI Rong-Min;LU Ya-Chao;LI Zhen;WANG Jie-Ying;CHANG Jie;LEI Shu-Qin;ZENG Qiao;SANG Yan-Mei(Baoding Key Laboratory of Clinical Research on Children's Respiratory and Digestive Diseases/Baoding Children's Hospital,Baoding,Hebei 071000)

机构地区：[1]保定市儿童医院/保定市儿童呼吸消化疾病临床研究重点实验室,河北保定071000 [2]国家儿童医学中心(北京)首都医科大学附属北京儿童医院/儿科学重点学科内分泌遗传代谢中心,北京100045

出　　处：《中国当代儿科杂志》2019年第12期1208-1211,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：Floating-Harbor综合征(FHS)是由于SRCAP基因突变引起的常染色体显性遗传病。该文报道1例FHS患儿的临床特点。患儿为11岁7个月的男孩,因发现身材矮小8年余就诊。患儿表现为特殊面部特征(三角脸、嘴唇薄、长睫毛)、骨骼畸形(手指弯曲)、语言表达障碍、骨龄落后。基因检测显示SRCAP基因存在新发c.7330C>T(p.R2444X)杂合突变。根据患儿特征性的临床表现及基因检测结果,患儿确诊为FHS。FHS临床罕见,容易漏诊及误诊,基因检测分析有助于FHS患儿的临床诊断。Floating-Harbor syndrome(FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features(triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia(curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.

关 键 词：Floating-Harbor综合征 SRCAP基因 儿童 

分 类 号：R72[医药卫生—儿科]