Bardet-Biedl Syndrome in Three Cases: [BARDET-BİEDL SENDROMU]

Can Boğa; Yalçın Kepekçi; Cüneyt Karaaslan; Hüseyin Güneyisi; Mustafa Demirtaş; Necdet A. Bekir

doi:10.58600/eurjther.19910102-604

Authors

Can Boğa Gaziantep Qniversitesi Tıp Fakültesi iç Hastalıkları Anabilim Dalı
Yalçın Kepekçi Gaziantep Qniversitesi Tıp Fakültesi iç Hastalıkları Anabilim Dalı
Cüneyt Karaaslan Gaziantep Universitesi Tıp Fakültesi Göz Hastalıkları Anabilim Dalı
Hüseyin Güneyisi Gaziantep Üniversitesi Tıp Fakültesi İç Hastalıkları Anabilim Dalı
Mustafa Demirtaş Çukurova Üniversitesi Tıp Fakültesi Kardiyoloji Anabilim Dalı
Necdet A. Bekir Gaziantep Üniversitesi Tıp Fakültesi Göz Hastalık/arı Anabilim Dalı

DOI:

https://doi.org/10.58600/eurjther.19910102-604

Keywords:

Bardet-Biedl syndrome, Polydactyly, hypogonadism, retina/ distrophy, tubulo interstitiel nephritis

Abstract

Three cases with Bardet-Biedl syndrome were presented. Retinal distrophy, obesity, polydactyly, mental retardation and hypogonadism were takan as a diagnostic criteria. Severe retinal distrophy, polydactily brachidactyly and obesity were found in three cases. lmmature penis and testis were determined in two mala patients and irregular menses were found in female patient. Tubulointerstitiel nephritis was diagnosed with renal biopsy while three cases have normal renal functions. As a result, we found all clinical manifestations of Bardet-Biedl Syndrome, plus possible renal inolvement and pes planus in all of our three cases.

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