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Pendred Sendromlu Kardeşler

Siblings with Pendred's syndrome

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 1996

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Pendred's syndrome is characterised by congenital deafness and goiter and transmitted as an autosomal recessive disease. Thyroid dysfunction is related to an enzymatic defect in the organification of iodine. This defect can be detected found by perchlorate discharge test which is to be diagnostic. The deafness is due to a congenital Mondini type malformation of cochlea. In this report, we present three male siblings with Pendred's syndrome. [Journal of Turgut Özal Medical Center 1996;3(3):220-222
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Abstract (Original Language): 
Pendred sendromu, otozomal resesif geçiş gösteren, guatr ve konjenital sağırlığın birlikte görüldüğü bir hastalıktır. Tiroid bezinde iyotun organifikasyonunda enzimatik bir bozukluk sözkonusudur. Organifıkasyon bozukluğu hastalık için diagnostik olan perklorat boşaltım testi ile gösterilmektedir. İşitme kaybının nedeni ise kohleanın Mondini tipi konjenital malformasyonu olarak bildirilmektedir. Bu makalede Pendred sendromlu 3 erkek kardeş sunulmuştur. [Turgut Özal Tıp Merkezi Dergisi 1996;3(3):220-222]
FULL TEXT (PDF): 
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  • 3
220-222
  • Turkish

REFERENCES

References: 

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