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‘CHARGE’ is an acronym that describes a constellation of clinical features including
Coloboma,
Heart defects,
choanal Atresia,
Retardation (of growth and/or development),
Genitourinary malformation and
Ear abnormalities.
👉complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene
CHARGE syndrome remains a clinical diagnosis.
Absent/hypoplastic semicircular canals are present in the majority of patients with CHARGE and are highly predictive of the presence of a CHD7 mutation.
Early involvement of a cardiologist, ophthalmologist, endocrinologist, geneticist and ear, nose and throat surgeon is recommended.
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Coloboma of the eye
Complete thymic aplasia rarely occurs but leads to severe combined immune deficiency.
Persistent lymphopenia in a patient with CHARGE must always be investigated
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Choanal atresia...
Other features
https://t.co/kmvK9TnyUI
https://t.co/dgrbYHtLMyonlinelibrary.wiley.com/doi/full/10.11…
healthjade.com/charge-syndrom…
slideshare.net/sharifaabdelaz…
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