A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation.
- Author:
Beom Hee LEE
1
;
Jae Min KIM
;
Jin Joo LEE
;
Gu Hwan KIM
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Noonan;
Cardiofaciocutaneous;
V-raf murine sarcoma viral oncogene homolog B1
- MeSH:
Ectodermal Dysplasia;
Exophthalmos;
Facies;
Failure to Thrive;
Hair;
Heart Defects, Congenital;
Ichthyosis;
Noonan Syndrome;
Oncogenes;
Phenotype;
Sarcoma;
Skin Manifestations
- From:Journal of Genetic Medicine
2009;6(1):87-90
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.
