Pendred 's syndrome

ABSTRACT

This report describes pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahim Yar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average [PTA] audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome