{Reference Type}: Journal Article
{Title}: Alagille Syndrome: A Case Report.
{Author}: Nair PG;Gayathri KS;
{Journal}: Indian J Otolaryngol Head Neck Surg
{Volume}: 74
{Issue}: 0
{Year}: Dec 2022
暂无{DOI}: 10.1007/s12070-020-02293-y
{Abstract}: Alagille Syndrome (ALGS) is a rare, autosomal dominant inherited disorder that causes abnormalities of liver, eye, heart, skeleton and distinctive facial appearance. ALGS is caused by mutation in one of two genes: JAG1 and NOTCH2. There are some reports of Hearing Loss in patients with ALGS raising the possibility of involvement of both structural components of middle ear and sensorineural components of the inner ear. The present case study was to emphasize audiological perspectives of Alagille Syndrome in a nine year old female child. Audiologists must be well aware of the typical features and clinical perspectives of ALGS and should be an expert in selecting appropriate tests and in interpreting findings.