Affiliation:
1. The Turner Scientific and Research Institute for Children’s Orthopedics of Russia
2. North Western State Medical University named after I.I. Mechnikov
Abstract
The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.
Publisher
Publishing House ABV Press
Subject
Neurology (clinical),Neurology