The Crouzan Syndrome-A Case Report

Prasad, Manu; Shetty, Ashwini; Shantaram, Manjula

doi:10.7860/jcdr/2013/4933.2988

Cited by 2 publications

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References 5 publications

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“…The evidence gathered through the present review of literature clearly identifies the FGFR family of genes playing a crucial role in craniofacial development. [42,43,44]…”

Section: Recent Gene Mutations Associated With Crouzon Syndromementioning

confidence: 99%

Novel Gene Mutations Associated with Crouzon Syndrome

D.Angel Fastina Mary

2020

Indian Journal of Forensic Medicine & Toxicology

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Crouzon syndrome exhibits consideration of phenotypic heterogeneity, within the aetiology of which genetics play a crucial role. The FGFR2 gene mediates extracellular signals into cells and mutations within the FGFR2 gene cause Crouzon syndrome. The review summarizes the genetic phenotype study and genetic evaluation related to Crouzon syndrome (CS) which frequently determines the degree of complexity, guide management, guidance and intervention related to this craniofacial defect. CS is a disorder characterized by early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, which may affect the form of the top and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); "beak-shaped" nose; and an underdeveloped upper jawbone. Other features may include dental problems, deafness, and/or harelip and palate. The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is typically normal, but intellectual disability could also be present. Crouzon syndrome is caused by changes (mutations) within the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to stop complications, improve function, and aid in healthy psychosocial development.

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“…The evidence gathered through the present review of literature clearly identifies the FGFR family of genes playing a crucial role in craniofacial development. [42,43,44]…”

Section: Recent Gene Mutations Associated With Crouzon Syndromementioning

confidence: 99%

Novel Gene Mutations Associated with Crouzon Syndrome

D.Angel Fastina Mary

2020

Indian Journal of Forensic Medicine & Toxicology

View full text Add to dashboard Cite

show abstract

“…[62][63][64] It is caused by premature fusion of the coronal and sagittal sutures. Most patients have exotropia with a V pattern and vision loss due to optic atrophy.…”

Section: Oculoplasty and Ocular Adnexamentioning

confidence: 99%