A Rare Case of Crouzon Syndrome

Abstract

Background: Crouzon’s syndrome is a rare autosomal dominant genetic disorder caused by mutations in the FGFR2 gene. It leads to craniosynostosis, where the premature fusion of skull bones results in distinct craniofacial abnormalities. Key clinical features include towering skull, hypertelorism, midface hypoplasia, bilateral proptosis and retrognathia. Early diagnosis and intervention are crucial for optimizing patient outcomes.  Case Summary: A 9-year-old girl presented with characteristic craniofacial features of Crouzon’s syndrome, including skull abnormalities, wide-set eyes, and protruding eyes. Additionally, she exhibited ENT complications, such as recurrent sore throat, nasal discharge, tonsillar hypertrophy, and mixed hearing loss. Radiographic findings confirmed cranial abnormalities, and biochemical tests showed altered metabolic markers. Given the positive family history and absence of limb anomalies, the diagnosis was confirmed. Management included antibiotic therapy, symptomatic relief, and a planned adenotonsillectomy surgery to address airway obstruction and improve quality of life.  Conclusion: This case emphasizes the importance of early diagnosis, multidisciplinary intervention, and long-term follow-up in Crouzon’s syndrome. A comprehensive approach enhances both functional and aesthetic outcomes, ultimately improving the patient’s quality of life.