Anterior lenticular opacities in Costello Syndrome

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Higher-order aberrations of lenticular opacities.

PURPOSE To measure and quantify higher-order aberrations induced by different types of lenticular opacities. SETTING Department of Ophthalmology, University of Auckland, and Department of Ophthalmology, Auckland Public Hospital, Auckland, New Zealand. METHODS Patients with lenticular opacities were recruited from outpatient clinics of a major tertiary referral center for ophthalmology. Pati...

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Costello syndrome.

Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...

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Anaesthetic Management in Costello Syndrome.

Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...

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Characteristics of Anterior Lens Opacities in Children

BACKGROUND Anterior lens opacities (ALO) are found in 3-14% of pediatric patients with cataracts. No clear guidelines exist in the management and treatment of these cataracts. OBJECTIVE To evaluate pediatric patients with anterior lens opacities and assess rate of amblyopia and need for surgery over time. METHODS A retrospective chart review was performed on patients with unilateral and bil...

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Craniofacial and dental development in Costello syndrome.

Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upst...

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ژورنال

عنوان ژورنال: American Journal of Ophthalmology Case Reports

سال: 2021

ISSN: 2451-9936

DOI: 10.1016/j.ajoc.2021.101036