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Crouzon Syndrome Associated with Congenital Coarctation of Aorta

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Author:
No author available
Journal Title:
Chinese Medical Journal
Issue:
12
DOI:
10.4103/0366-6999.233963
Key Word:
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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.

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