AI Article Synopsis
- Harboyan syndrome is a rare genetic disorder that is inherited in an autosomal recessive manner, primarily characterized by congenital hereditary endothelial dystrophy (CHED) and later onset sensorineural hearing loss.
- A case study of a 4-year-old girl diagnosed with congenital cytomegalovirus (CMV) infection initially suggested she had hearing and visual impairments, which can also occur due to CMV.
- Through detailed phenotyping and genetic testing, the girl's symptoms were more accurately attributed to Harboyan syndrome instead of CMV.
Article Abstract
Harboyan syndrome is a rare autosomal recessive disorder characterised by congenital hereditary endothelial dystrophy (CHED), with a later onset of sensorineural hearing loss, due to pathogenic variants in the gene. Congenital cytomegalovirus (CMV) may also manifest with sensorineural hearing loss and visual impairment. We present a case of a 4-year-old girl, diagnosed at birth with a congenital CMV infection, but careful phenotyping and genetic testing permitted a more likely diagnosis of Harboyan syndrome.
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| http://dx.doi.org/10.1080/13816810.2022.2083182 | DOI Listing |
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