本文選題：瞼裂狹小 + 上瞼下垂�。� 參考：《臨床兒科雜志》2017年07期

【摘要】：目的探索瞼裂狹小-上瞼下垂-智障綜合征(BPID)的臨床特征及基因突變。方法回顧新生兒重癥監(jiān)護(hù)病房(NICU)收治的1例BPID患兒的臨床資料和診治經(jīng)過(guò),結(jié)合Pub Med數(shù)據(jù)庫(kù)的檢索文獻(xiàn),復(fù)習(xí)BPID及所屬瞼裂狹小-智障綜合征(BMR)的常見(jiàn)分型、臨床特點(diǎn)、診斷及遺傳咨詢。結(jié)果患兒出生胎齡39周,男,出生體質(zhì)量1 920 g,生后15min因呼吸困難收住NICU。主要臨床表現(xiàn)為瞼裂狹小、上瞼下垂、小下頜等面部畸形,吸氣性呼吸困難伴喉軟骨軟化、胸廓發(fā)育畸形,以及喂養(yǎng)困難等。通過(guò)全外顯子基因測(cè)序,確定為UBE3B基因的復(fù)合雜合突變導(dǎo)致,診斷為BPID,為罕見(jiàn)基因病。查閱文獻(xiàn),國(guó)內(nèi)尚未見(jiàn)相關(guān)報(bào)道,國(guó)外文獻(xiàn)1篇含來(lái)自4個(gè)家庭的5例患者,屬于BMR的分型之一,為常染色體隱性遺傳病,均由UBE3B基因突變導(dǎo)致。結(jié)論 BPID屬BMR,臨床罕見(jiàn),全外顯子基因測(cè)序可以明確診斷。
[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.
【作者單位】： .北京大學(xué)國(guó)際醫(yī)院兒科;北京大學(xué)第三醫(yī)院兒科;
【分類號(hào)】：R725.9

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