title: Pendred's syndrome.
abstract: 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.
authors.affiliation: Department of Paediatrics, Sheikh Zayed Hospital, Rahim Yar Khan, Pakistan. szhlil@hotmail.com
authors.forename: M I Babar
authors.initials: MI
authors.lastname: Hashmi
authors.forename: Muhammad Jahangir
authors.initials: MJ
authors.lastname: Khan
authors.forename: Nadeem
authors.initials: N
authors.lastname: Abbasi
authors.forename: Ijaz Ahmed
authors.initials: IA
authors.lastname: Cheema
authors.forename: Ghulam
authors.initials: G
authors.lastname: Qasim
mesh_terms: 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
chemical_list: D007454:Iodides