| 陈诚,冯婧,柳国胜,等.Pfeiffer综合征 1例遗传学与临床特征[J].安徽医药,2021,25(3):572-574. |
| Pfeiffer综合征 1例遗传学与临床特征 |
| The genetic and clinic characteristics of 1 case with Pfeiffer syndrome |
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| DOI：10.3969/j.issn.1009-6469.2021.03.034 |
| 中文关键词: 尖头并指(趾)畸形 染色体畸变 病理状态，体征和症状 婴儿，新生 Pfeiffer综合征 基因突变 |
| 英文关键词: Acrocephalosyndactylia Chromosome aberrations Pathological conditions, signs and symptoms Infant, newborn Pfeiffer syndrome Gene mutation Pfeiffer |
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| 中文摘要: |
| 目的探讨 Pfeiffer综合征的临床表现与遗传学特征。方法 2017年 11月深圳市龙岗区妇幼保健院发现 1例 Pfeiffer综合征病儿，通过其临床表现，影像学检查及基因检测分析其临床特征。结果病儿主诉胎龄 35+2周，生后发现畸形 20 min。出生即有典型的三叶草头颅及突眼、高腭弓、颈短、低耳位、外耳道闭锁等头面部畸形，以及其他骨骼发育异常表现，如肘关节强直、粗大倾斜的大拇指及大脚趾、尾椎骨外翻等畸形表现，通过基因检测分析，发现成纤维细胞生长因子受体 2(FGFR2)基因变异，确诊为 Pfeiffer综合征 Ⅱ型。结论 Pfeiffer综合征是一种罕见的常染色体显性遗传病，通过病儿典型的临床特征及 FGFR2基因突变最终确诊。 |
| 英文摘要: |
| Objective To investigate the clinical manifestations and genetic characteristics of Pfeiffer syndrome.Methods A case of Pfeiffer syndrome was found in Longgang Maternal and Child Health Hospital of Shenzhen in November 2017. The clinical featureswere analyzed by its clinical manifestations, imaging examinations and genetic testing.Results The child complained of gestational age of 35+2 weeks, and deformity was found 20 minutes after birth. At birth, there were manifestations of typical clover head and exoph?thalmos, high palatine arch, short neck, low ear position, external auditory canal atresia and other head and facial deformities, as wellas other skeletal development abnormalities, such as elbow joint stiffness, thick and inclined thumb and big toe. Genetic testing andanalysis revealed mutations of FGFR2 gene, which was diagnosed as Pfeiffer syndrome type Ⅱ.Conclusion Pfeiffer syndrome is arare autosomal dominant genetic disease, which is finally diagnosed by the typical clinical features of children and fibroblast growth fac?tor receptor 2 (FGFR2) gene mutations. |
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