Qiong Tang, Dai Gong, Xiao-Min Ye, Jun-Ru Xu, Yi-Can Yang, Li-Juan Yan, Li Zou, Xiang-Lan Wen
Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without the typical heart malformations but with craniofacial features, skin abnormalities, intellectual disability, and short stature...
2023: Pharmacogenomics and Personalized Medicine