期刊
OPHTHALMIC GENETICS
卷 43, 期 5, 页码 685-688出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2022.2083182
关键词
Harboyan syndrome; congenital corneal opacity; congenital cytomegalovirus; deafness
Harboyan syndrome is a rare genetic disorder characterized by congenital hereditary endothelial dystrophy (CHED), with a later onset of sensorineural hearing loss.
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 SLC4A11 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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