Crouzon's Syndrome: A Rare Genetic Disorder
Anupriya Kaushik1, Hindpal Bhatia2, Naresh Sharma3
1Senior Lecturer, Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India.
Crouzon's syndrome is a rare genetic disorder caused by FGFR2 gene mutations, leading to premature skull suture fusion (craniosynostosis) and affecting brain growth. This case report details the clinical features of a 10-year-old male patient with this condition.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Crouzon's syndrome, also known as brachial arch syndrome, is a rare autosomal dominant genetic disorder.
- It is characterized by craniosynostosis, which is the premature fusion of skull sutures, and associated dentofacial anomalies.
- The condition arises from mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.
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