Lu Yuan-Yuan, Zhang Zuo-Hui, Li Xue, Guan Na
Second Department of Pediatrics, Department of Neonatology, Weifang People's Hospital, Weifang, Shandong 261041, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):202-204. doi: 10.7499/j.issn.1008-8830.2210045.
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 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.
一名足月儿女性婴儿于出生后5小时因胎儿期发现心脏畸形及出生后出现一次青紫入院。发现眼、面、四肢及心脏存在多处畸形。全外显子组测序显示该基因存在致病性杂合突变c.2428C>T(p.Arg810)。该婴儿随后被诊断为眼-面-心-牙综合征。住院期间给予辅助通气以改善氧合及营养支持。出生后1个月进行了右心室双出口矫正术。对眼部病变进行随访并安排择期手术。对于眼、面及心脏存在多处畸形的新生儿，应考虑眼-面-心-牙综合征的可能性，并尽早进行基因检测以确诊；同时，应积极给予眼科及心血管对症治疗以改善预后。
