A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome

Cardiofaciocutaneous syndrome (CFC) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay[1]. CFC is caused by mutations in BRAF, MEK1, MEK2, KRAS genes encoding proteins of the RAS/MAPK signaling pathway. In more than 70% of CFC patients, BRAF mutations are detected[2]. We present here a 10-year-old boy who was referred to the department of Medical Genetics for dysmorphological evaluation because of severe developmental delay, short stature and dysmorphic features. He was the third child of healthy, non-consanguineous Turkish parents. His parents and two siblings were healthy. He was born at term after an uneventful pregnancy. His birth weight was 3000 g (10-25th centile), height 50 cm (50th centile). His developmental milestones were globally delayed.