患儿女，足月儿，生后5 h，因胎儿期发现心脏畸形，生后发绀1次入院。检查发现存在眼、面部、四肢、心脏多发畸形，全外显子基因检测显示BCOR基因存在致病性杂合突变c.2428C>T(p.Arg810*)，该患儿诊断为眼-面-心-牙综合征。住院期间予以辅助通气改善氧合、营养支持等治疗，生后1个月于外院行右室双出口矫治术，眼部病变于眼科随诊择期手术治疗。对于存在眼、面部、心脏多发畸形的新生儿应注意眼-面-心-牙综合征可能，需尽早完善基因检测明确诊断，同时积极给予眼及心血管方面的对症治疗，有助于改善患儿预后。
Abstract
A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.
关键词
眼-面-心-牙综合征 /
BCOR基因 /
新生儿
Key words
Oculo-facio-cardio-dental syndrome /
BCOR gene /
Neonate
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参考文献
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