BCOR基因突变致新生儿眼-面-心-牙综合征1例

Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations:a case report

患儿女,足月儿,生后5h,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。

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 1month after birth.Ocular lesions were followed up and scheduled for elective surgery.The possibility of oculo-faciocardio-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.