"Radiographic features "
"Inner ear malformations are an invariable finding in Pendred syndrome. The most commonly described features are the following 1:"
"It was first described by Vaughan Pendred (1869–1946) in 1896 1,4."
"It was first described by Vaughan Pendred (1869–1946) in 1896 1,4."
"There is an autosomal recessive pattern inheritance, although this appears complex with most patients being compound heterozygotes. Variations in one gene (SLC26A4) which encodes for the protein pendrin, is found in ~50% of patients with this syndrome although multiple other genes (e.g. FOXI1, KCJN10) have been implicated 3."
Expected headings
"Radiographic features "
"CT"
"There is an autosomal recessive pattern inheritance, although this appears complex with most patients being compound heterozygotes. Variations in one gene (SLC26A4) which encodes for the protein pendrin, is found in ~50% of patients with this syndrome although multiple other genes (e.g. FOXI1, KCJN10) have been implicated 3."