Article
Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.
The Journal of clinical endocrinology and metabolism - 1 Aug 2001
Yong A M, Goh S S, Zhao Y, Eng P H, Koh L K, Khoo D H
Abstract excerpt
We report two families in whom the index cases satisfied the classical diagnostic criteria of Pendred's syndrome. In family I, two siblings were deaf, and one was normal. In family II, both parents and two offspring were deaf. Computed tomography scans performed in five of six of these deaf individuals showed enlarged vestibular aqueducts in all cases, and Mondini cochlea only in family II. Affected members in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.