Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report.
10.7499/j.issn.1008-8830.2210045
- Author:
Yuan-Yuan LU
1
;
Zuo-Hui ZHANG
1
;
Xue LI
;
Na GUAN
1
Author Information
1. Second Department of Pediatrics, Department of Neonatology, Weifang People's Hospital, Weifang, Shandong 261041, China.
- Publication Type:Journal Article
- Keywords:
BCOR gene;
Neonate;
Oculo-facio-cardio-dental syndrome
- MeSH:
Female;
Humans;
Infant;
Infant, Newborn;
Male;
Abnormalities, Multiple/therapy*;
Cataract/genetics*;
Cyanosis;
Proto-Oncogene Proteins;
Repressor Proteins/genetics*;
Heart Defects, Congenital/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(2):202-204
- CountryChina
- Language:Chinese
-
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.
