Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non‐penetrant Crouzon syndrome

Quintero‐Rivera, Fabiola; Martinez‐Agosto, Julian A.

doi:10.1111/j.1440-1754.2009.01692.x

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…A number of case reports [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] have been published, which contribute to our understanding of the clinical presentations of craniosynostosis, genetic mutations, phenotypic expression, ocular findings, and strabismus management. There have also been several large studies that have contributed to our understanding of the prevalence of eye findings in craniosynostosis.…”

Section: Introductionmentioning

confidence: 98%

Newer Understanding of Eye Issues in Craniofacial Malformations

Collins

2015

Curr Ophthalmol Rep

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Pediatric patients with craniofacial abnormalities face unique challenges requiring early intervention and longitudinal care for their ocular and systemic problems. Non-syndromic and syndromic craniosynostoses involve asymmetric development of the cranial vault and facial bones, which frequently leads to ophthalmic manifestations, including strabismus, refractive error, and visual field losses. In recent years, ophthalmologists, craniofacial surgeons, and pediatricians involved in caring for craniosynostosis patients have found that timely surgery and monitoring, using refined devices such as spectral-domain optical coherence tomography, can lead to improved quality of life and prognosis for these patients. We review relevant literature from the past 5 years describing and managing ocular symptoms of craniosynostosis.

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Section: Introductionmentioning

confidence: 98%

Newer Understanding of Eye Issues in Craniofacial Malformations

Collins

2015

Curr Ophthalmol Rep

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“…The prominent manifestations of these patients can be detected upon physical examination. Brachycephaly, hypertelorism, proptosis, flattened forehead, beaked noses, and maxillary/midface hypoplasia are the most common features[ 3 , 12 - 14 ]. Hearing loss, strabismus (misaligned eyes), a cleft lip and palate, and dental problems can be also seen from these patients[ 12 , 15 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

Crouzon syndrome in a fraternal twin: A case report and review of the literature

Li¹,

Su²,

Ye³

2022

WJCC

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BACKGROUND Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2 ( FGFR2 ) gene. CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative mandibular prognathism. CASE SUMMARY Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing. The fraternal girl did not show any abnormalities indicating CS. Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance, orthodontic treatment was planned, and preventive procedures were described. CONCLUSION CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene. Oral hygiene instruction, preventive programs on oral hygiene, orthodontic treatment, and maxillary osteotomy were required for treatment.

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