A unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition – A case report
Hariom Vaja, Shubham Nayankumar Patel, Abhishek Vadher, Masum Patel, Megh Bhaveshkumar Patel, Jaimin Shah- Neurology (clinical)
- Surgery
Background:
Crouzon syndrome is a rare genetic disorder characterized by premature fusion of skull sutures during skull development, resulting in various craniofacial abnormalities and complex craniosynostosis is a condition in which more than one such sutures of the skull fuse prematurely.
Case Description:
Herein, we present a case of a 5-year-old male diagnosed with Crouzon-like syndrome and complex craniosynostosis involving multiple cranial sutures, including metopic, sagittal, coronal (right and left), and lambdoid sutures, and without any identifiable mutations on karyotyping. The patient underwent successful surgical intervention with a satisfactory outcome, highlighting the importance of early diagnosis and intervention to prevent or minimize associated neurological manifestations and craniofacial abnormalities.
Conclusion:
Our case report underscores the involvement of multiple cranial sutures in complex craniosynostosis and the absence of identifiable mutations or family history of similar craniofacial abnormalities, providing important insights into the diagnosis and management of this condition.