Pendred's syndrome.
This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahim YarKhan. 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.
Hashmi
M I Babar
MI
Department of Paediatrics, Sheikh Zayed Hospital, Rahim Yar Khan, Pakistan. szhlil@hotmail.com
Khan
Muhammad Jahangir
MJ
Abbasi
Nadeem
N
Cheema
Ijaz Ahmed
IA
Qasim
Ghulam
G
D002648:Child; D003241:Consanguinity; D003638:Deafness / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006042:Goiter; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007454:Iodides / Q000378:metabolism; D008297:Male; D013959:Thyroid Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
D007454:Iodides