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

Yuan-Yuan Lu1, Zuo-Hui Zhang1, Xue Li

  • 1Second Department of Pediatrics, Department of Neonatology, Weifang People's Hospital, Weifang, Shandong 261041, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|February 28, 2023
PubMed

Insights

Oculo-facio-cardio-dental syndrome, a rare genetic disorder, was diagnosed in a neonate with multiple congenital anomalies. Early genetic testing and prompt treatment are crucial for improving outcomes in affected infants.

Area of Science:

  • Genetics
  • Pediatric Cardiology
  • Ophthalmology

Background:

  • Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by a spectrum of congenital anomalies.
  • Infants with OFCD often present with complex heart defects, facial dysmorphisms, ocular abnormalities, and dental anomalies.
  • Early diagnosis and management are critical for improving the prognosis of affected individuals.

Keywords:
BCOR geneNeonateOculo-facio-cardio-dental syndrome

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