A unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition - A case report.

Autor:	Vaja H; Department of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Patel SN; Department of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Vadher A; Department of Medicine, Government Hospital Palsana, Palsana, Gujarat, India., Patel M; Department of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Patel MB; Department of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India., Shah J; Department of Neurosurgery, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Jazyk:	angličtina
Zdroj:	Surgical neurology international [Surg Neurol Int] 2023 Dec 08; Vol. 14, pp. 422. Date of Electronic Publication: 2023 Dec 08 (Print Publication: 2023).
DOI:	10.25259/SNI_424_2023
Abstrakt:	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. Competing Interests: There are no conflicts of interest. (Copyright: © 2023 Surgical Neurology International.)
Databáze:	MEDLINE
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