Glaucoma With Crouzon Syndrome

Alshamrani, Abdulaziz A; Al-Shahwan, Sami

doi:10.1097/ijg.0000000000000946

Cited by 6 publications

(6 citation statements)

References 11 publications

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“…Another recent report by Alshamrani et al . [ 9 ] described glaucoma in a 10-year-old female with CS. The patient had brachycephaly along with proptosis, exposure keratopathy, and congenital glaucoma.…”

Section: Methodsmentioning

confidence: 99%

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Crouzon syndrome and the eye: An overview

Bhattacharjee

Rehman²,

Venkatraman³

et al. 2022

Indian Journal of Ophthalmology

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The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of the craniosynostosis syndromes. Early fusion of sutures results in craniofacial anomalies, including abnormalities of the orbits. To prepare this review of the ophthalmic findings in this disorder, an organized search on online databases such as PubMed, Scopus, Cochrane Library, and Ovid was carried out. The key terms searched were “Crouzon”, “craniosynostosis”, “eye” and “ophthalmic”, and 51 research items were found. A total of 17 articles were included after scrutiny of the databases and a further 25 articles were added after augmented search. A detailed review was performed from the final 42 articles. A comprehensive description of associated anomalies is given along with the author’s own technique of surgical management in cases with Crouzon syndrome having bilateral luxation bulbi with exposure keratopathy. However, for optimum management of cranial and oculo-facial dysmorphisms, a multidisciplinary team of specialists is required.

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Section: Methodsmentioning

confidence: 99%

“…Other ocular findings include vision impairment,[ 6 ] strabismus,[ 7 ] nystagmus,[ 8 ] and glaucoma. [ 9 ] Few lesser found associations include abnormalities in corneal size (megalo/microcornea), keratoconus, aniridia, corectopia. [ 8 ] This review is aimed at studying the ocular associations in greater detail.…”

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confidence: 99%

Crouzon syndrome and the eye: An overview

Bhattacharjee

Rehman²,

Venkatraman³

et al. 2022

Indian Journal of Ophthalmology

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“…However, in particular in Crouzon syndrome, there is evidence to suggest that FGFR2 plays a role in ocular anterior chamber dysgenesis and therefore these patients are at higher risk of developing glaucoma and this should be borne in mind. [ 19 ]…”

Section: G Laucomamentioning

confidence: 99%

Ophthalmological care of patients with craniofacial disorders

et al. 2022

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A BSTRACT Patients presenting with craniofacial conditions present a unique challenge from an ophthalmological view point. There are no set guidelines as to their management or their long-term monitoring and follow-up. Largely, this should be the remit of a dedicated craniofacial team. Here we present pertinent ophthalmological pathology occurring in combination with craniosynostosis alongside the protocol employed in Birmingham Children’s Hospital for the management of these patients.

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“…[5] Crouzon syndrome is featured by acrocephaly, exophthalmos, hypertelorism, strabismus, and hypoplastic maxilla with normal hands and feet, which is often caused by FGFR2 or FGFR3. [6] With the increasing development of ultrasound technology, most fetal skeletal structures can be identified by 12 weeks gestation. However ossification does not stop in the subsequent gestation and early fetal skeletal system abnormalities cannot completely indicate abnormal fetal development.…”

Section: Data Sharing Not Applicable To This Article As No Datasets W...mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports

Wang

Zhai

et al. 2022

Medicine

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Rationale: Fetal skeletal anomalies are one of the most common and potentially pathogenic developmental abnormalities detected by ultrasound screening. Any suspected fetal skeletal dysplasias often require further comprehensive evaluations.Patient concerns: Here 4 families with adverse fetal skeletal system histories were enrolled, including their histories of gestation, childbirth, familial skeletal abnormalities, and pregnancy outcomes. The corresponding diagnosis were done by whole exome sequencing (WES) combined with dynamic examination.Diagnosis: All of the families were definitively diagnosed through cytogenetics, molecular genetics, ultrasound, combined with multidisciplinary evaluation. Both of the fetuses in case 1 and case 2 were diagnosed with thanatophoric dysplasia type I, while the neonate in case 3 was diagnosed with Apert syndrome and a 3-years-old proband daughter with Crouzon syndrome in case 4.Interventions: We conducted karyotyping, copy number variation sequencing (CNV-seq), combined with WES to evaluate genetic conditions of abnormal fetus, neonate or proband patient. WES was preferred to obtain a relatively definitive diagnosis.Outcomes: In cases 1 and 2, the families decided to choose termination of pregnancy due to fatal dysplasias. The couple in case 3, delivered a female baby diagnosed with Apert syndrome. Fortunately, in case 4, the family, which had a 3-years-old baby with Crouzon syndrome, gave birth to a healthy baby through prenatal diagnosis.Lessons subsections: Invasive prenatal diagnosis and dynamic assessments for the management of fetal skeletal dysplasias could contribute to revealing possible causes of fetal skeletal abnormalities and help clinicians conduct further genetic counseling in clinical practice.

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Glaucoma With Crouzon Syndrome

Cited by 6 publications

References 11 publications

Crouzon syndrome and the eye: An overview

Crouzon syndrome and the eye: An overview

Ophthalmological care of patients with craniofacial disorders

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports

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