Pendred’s syndrome.

M. I. Babar Hashmi; Ijaz Ahmad Cheema; Ghulam-Qasim; Muhammad Jahangir Khan; Nadeem Abbasi

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Pendred’s syndrome.

Author(s)

M. I. Babar Hashmi Department of Paediatrics, Sheikh Zayed Hospital, Rahim Yar Khan, Pakistan

Ijaz Ahmad Cheema Department of Paediatrics, Sheikh Zayed Hospital, Rahim Yar Khan, Pakistan

Ghulam-Qasim Department of Paediatrics, Sheikh Zayed Hospital, Rahim Yar Khan, Pakistan

Muhammad Jahangir Khan Department of Surgery, Sh. Zayed Medical College/Hospital, Rahim Yar Khan, Pakistan

Nadeem Abbasi Multan Atomic Energy Centre, Nishter Hospital, Multan, Pakistan

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 parchlorate 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.

Publication Details

Page(s) 463-464

DOI DOI not available

Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 13, Issue: 8, Year: 2003

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