Photo by impulsq from unsplash
To the Editor: Crouzon Syndrome (CS), also known as craniosynostosis, is an autosomal dominant genetic disorder linked to single‐gene mutation of fibroblast growth factor receptor 2 (FGFR2).[1‐3] The premature fusion… Click to show full abstract
To the Editor: Crouzon Syndrome (CS), also known as craniosynostosis, is an autosomal dominant genetic disorder linked to single‐gene mutation of fibroblast growth factor receptor 2 (FGFR2).[1‐3] The premature fusion of certain skull bones results in a serial of dysmorphic features including underdeveloped maxilla, protruded mandible, shallow orbits, proptosis, and beaked nose. Other abnormalities were reported as visual impairment, hearing problems, and airway obstruction. It is not common that CS presents with congenital cardiac anomalies, making up only four cases across the world so far.[4‐7]
Journal Title: Chinese Medical Journal
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!