睑裂狭小-上睑下垂-智障综合征1例报告并文献复习

发布时间：2018-07-03 11:01

本文选题：睑裂狭小 + 上睑下垂　；参考：《临床儿科杂志》2017年07期

【摘要】：目的探索睑裂狭小-上睑下垂-智障综合征(BPID)的临床特征及基因突变。方法回顾新生儿重症监护病房(NICU)收治的1例BPID患儿的临床资料和诊治经过,结合Pub Med数据库的检索文献,复习BPID及所属睑裂狭小-智障综合征(BMR)的常见分型、临床特点、诊断及遗传咨询。结果患儿出生胎龄39周,男,出生体质量1 920 g,生后15min因呼吸困难收住NICU。主要临床表现为睑裂狭小、上睑下垂、小下颌等面部畸形,吸气性呼吸困难伴喉软骨软化、胸廓发育畸形,以及喂养困难等。通过全外显子基因测序,确定为UBE3B基因的复合杂合突变导致,诊断为BPID,为罕见基因病。查阅文献,国内尚未见相关报道,国外文献1篇含来自4个家庭的5例患者,属于BMR的分型之一,为常染色体隐性遗传病,均由UBE3B基因突变导致。结论 BPID属BMR,临床罕见,全外显子基因测序可以明确诊断。
[Abstract]:Objective to investigate the clinical features and gene mutation of blepharoptosis syndrome (BPID). Methods the clinical data, diagnosis and treatment of a patient with BPID in neonatal intensive care unit (NICU) were reviewed. The common classification and clinical characteristics of BPID and its associated BMR were reviewed in combination with the search literature of Pub Med database. Diagnosis and genetic counseling. Results the gestational age was 39 weeks, male, birth weight was 1 920 g. After birth, 15min received NICU because of dyspnea. The main clinical manifestations were small eyelid fissure, ptosis, small mandible and other facial deformities, inspiratory dyspnea with laryngeal chondromalacia, thoracic deformity, and feeding difficulties. By sequencing the whole exon gene, it was confirmed that UBE3B gene was a complex heterozygous mutation, which was diagnosed as BPIDand was a rare gene disease. There were no related reports in China. One article of foreign literature, including 5 patients from 4 families, was classified as an autosomal recessive hereditary disease, all of which were caused by UBE3B gene mutation. Conclusion BPID is a kind of BMRs, which is rare in clinic and can be clearly diagnosed by total exon gene sequencing.
【作者单位】： .北京大学国际医院儿科;北京大学第三医院儿科;
【分类号】：R725.9

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