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.
Key words
Oculo-facio-cardio-dental syndrome /
BCOR gene /
Neonate
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
1 王秋菊, 沈亦平, 陈少科, 等. 遗传变异分类标准与指南[J]. 中国科学(生命科学), 2017, 47(6): 668-688. DOI:10.1360/N052017-00099.
2 Hilton E, Johnston J, Whalen S, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects[J]. Eur J Hum Genet, 2009, 17(10): 1325-1335. PMID: 19367324. PMCID: PMC2826145. DOI: 10.1038/ejhg.2009.52.
3 Hu Q, Mai J, Xiang Q, et al. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report[J]. BMC Pediatr, 2022, 22(1): 82. PMID: 35130870. PMCID: PMC8819928. DOI: 10.1186/s12887-022-03148-x.
4 O'Byrne JJ, Laffan E, Murray DJ, et al. Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness[J]. Am J Med Genet A, 2017, 173(5): 1374-1377. PMID: 28317252. DOI: 10.1002/ajmg.a.38128.
5 Min Soe K, Ogawa T, Moriyama K. Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome[J]. Front Physiol, 2022, 13: 946282. PMID: 35957990. PMCID: PMC9359619. DOI: 10.3389/fphys.2022.946282.
6 贾红艳, 王进达, 张景尚, 等. 一例眼-面-心-牙综合征患者的临床表型特征及分子遗传学研究[J]. 中华眼视光学与视觉科学杂志, 2016, 18(3): 137-141. DOI:10.3760/cma.j.issn.1674-845X.2016.03.003.
PDF(708 KB)
