Bardet-Biedl Syndrome in Three Cases

[BARDET-BİEDL SENDROMU]


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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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References

Laurence-Moon and Bardet-Biedl syndromes-Lancet 2: 1178, 1988

Green SJ, Parfrey SP, Harnett D,J, et al. The cardinal manifestation of Bardet-Biedl syndrome, a form of Laurence-Moon- Biedl Syndrome. N. Eng J Med 321, 1002-9,1989.

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Sato H, Saito T, Yamage K, et al. Renal histopathology of Laurence-Moon-Biedl Syndrome. Tubulointerstitiel nephritis without spesific glomerular changes. Nephron 49: 337-8, 1988.

Churchill DN; Mc Manam an p, Hurley RM. Renal disease- a sixth cardinal feature of the LaurenceMoon-Biedl Syndrome. Clin Nephrol 16: 151-4, 1981.

Erek E. Böbrek fonksiyonlarının ölçülmesi. Nefroloji. Emek Matbaası, 2. Baskı, İstanbul 1984, s 80.

Harnett JD, Green JS, Cramer BC, et al. The spectrum of renal disease in Laurence Moon Biedl Syndrome. N. Eng J Med. 319; 615-8, 1988.

Polson DW, Adams J, Wadswath J, et al. Polycystic ovaries-a common finding in normal woman. Lancet 1 :870-2, 1988.

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Published

1991-01-01

How to Cite

Boğa, C., Kepekçi, Y., Karaaslan, C., Güneyisi, H., Demirtaş, M., & Bekir, N. A. (1991). Bardet-Biedl Syndrome in Three Cases: [BARDET-BİEDL SENDROMU]. European Journal of Therapeutics, 2(1), 65–73. https://doi.org/10.58600/eurjther.19910102-604

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Section

Case Reports