Evidence map›Paper›PMID 38213431›Full record

ArticleSurgical neurology international2023

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

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Article in Surgical neurology international, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Hariom VajaDepartment of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Shubham Nayankumar PatelDepartment of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Abhishek VadherDepartment of Medicine, Government Hospital Palsana, Palsana, Gujarat, India.
Masum PatelDepartment of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Megh Bhaveshkumar PatelDepartment of Medicine, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Jaimin ShahDepartment of Neurosurgery, Byramjee Jeejeebhoy Medical College and Civil Hospital, Ahmedabad, Gujarat, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Complex craniosynostosisCranial reconstructionCrouzon syndromeGenetic disordersNeurologyPediatric neurology

Identifiers

PMID38213431
PMCPMC10783658

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