Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 202-204, 2023.
Article
em Zh
| WPRIM
| ID: wpr-971060
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Proteínas Repressoras
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Anormalidades Múltiplas
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Catarata
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Proteínas Proto-Oncogênicas
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Cianose
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Cardiopatias Congênitas
Limite:
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2023
Tipo de documento:
Article