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PubMed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1920 g,生后15 min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.%Objective To explore the clinical features and gene mutations of blepharophimosis-ptosis-intellectual-disability syndrome (BPID). Methods The clinical data, diagnosis and treatment of a child with BPID in neonatal intensive care unit (NICU) were reviewed. Based on the literature retrieved from PubMed database, the common classification, clinical features, diagnosis and genetic counseling of BPID and its affiliated blepharophimosis-mental retardation syndromes (BMR) were reviewed. Results This male infant was 39 weeks of gestational age with birth weight of 1920 g, and was admitted to NICU 15 min after birth due to dyspnea. The main clinical manifestations were facial deformity such as biepharophimosis, ptosis and micromandible, inspiratory dyspnea with laryngeal cartilage softening, malformations of the thorax and feeding difficulties. A heterozygous mutation in UBE3B gene was identified by complete exon sequencing and he was diagnosed of BPID, a rare genetic disorder. Reviewing the literature, there was no relevant report in domestic. While one foreign literature was found to report 5 patients from 4 families having a subtype of BMR, a kind of autosomal recessive diseases caused by mutations in the UBE3B gene. Conclusion BPID is a rare clinical entity of BMR. Complete exon sequencing can be used to diagnose the disease.
展开▼
