Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation

Article Genetics & Heredity

Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome

Chiara Leoni et al.

Summary: CFCS is characterized by decreased bone mineral density, with BMD z-scores and t-scores below the reference range. Monitoring bone health is crucial for affected individuals.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

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Article Genetics & Heredity

Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development

Suma P. Shankar et al.

Summary: Costello syndrome commonly presents with ophthalmic manifestations such as lack of stereopsis, refractive errors, strabismus, nystagmus, optic nerve abnormalities, and ptosis. Early ophthalmic evaluation and treatment are crucial for preventing long-term vision impairment and improving quality of life in individuals with this syndrome.

OPHTHALMIC GENETICS (2022)

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Review Ophthalmology

A Narrative Review of the Ocular Manifestations in Noonan Syndrome

Evita Evangelia Christou et al.

Summary: This review provides updated information on ophthalmological manifestations of Noonan Syndrome (NS), indicating a wide spectrum of ocular characteristics in NS patients. The diversity of related gene mutations and the potential association of genetic basis with clinical expressivity remain challenging aspects of this issue. Further research is needed to establish genotype-phenotype correlation in clinical practice.

SEMINARS IN OPHTHALMOLOGY (2022)

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Article Genetics & Heredity

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Chiara Leoni et al.

Summary: Orthopedic manifestations are common in patients with Costello syndrome and cardio-facio-cutaneous syndrome, with differences in severity and characteristics based on genetic variants. Functional assessments by using 6MWT and PODCI could help evaluate the impact on patient outcomes and guide tailored treatment approaches.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Review Ophthalmology

Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute

Janos Nemeth et al.

Summary: The prevalence of myopia is increasing globally, with an estimated 2.6 billion people predicted to be affected in 2020 and potentially 4.9 billion by 2050. Urgent action is needed to prevent irreversible vision impairment caused by high myopia.

EUROPEAN JOURNAL OF OPHTHALMOLOGY (2021)

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Article Medicine, General & Internal