SavedAdd your journal

Journals / Endokrinolojide Diyalog Dergisi / 2010 / Cilt: 7 - Sayı: 1

A patient with Bbs Who had bone deformities and vertebral hemangiomas

Kemik deformiteleri ve vertabral hemanjiomlarıyla farklı klinik özellikler gösteren bir Bardet-Biedl sendromu olgusu

Faruk KUTLUTÜRK
Pages
47–49
Publication Date
2022-10-11
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here in we discussed a patient with BBS who had bone deformities and vertebral hemangiomas.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Bardet Biedel Syndrome, a rare autosomal recessive disorder, is characteristiced by obesity, mental retardation, retinitis pigmentosa, polydactly, renal failure and hypogenitalism.
📊
Key Findings & Data:To date, twelve BBS genes have been cloned (BBS1-BBS12).
💡
Conclusion & Impact:Here in we discussed a patient with BBS who had bone deformities and vertebral hemangiomas.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Bardet Biedel Syndrome, a rare autosomal recessive disorder, is characteristiced by obesity, mental retardation, retinitis pigmentosa, polydactly, renal failure and hypogenitalism. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-BBS12). Here in we discussed a patient with BBS who had bone deformities and vertebral hemangiomas.

Özet

Bardet Biedl Sendromu (BBS), obezite, mental retardasyon, retinitis pigmentosa, polidaktili, renal anomaliler ve hipogonadizmin görüldüğü nadir bir otozomal resesif hastalıktır. Diyabet, kalp hastalıkları, hepatik fibroz, nörolojik bulgular ve ciltte pigmente nevüslerde hastalığa eşlik edebilmektedir. Günümüze kadar BBS sendromu ile ilişkili 12 gen tanımlanmıştır (BBS1-BBS12). Kemik deformiteleri ve yaygın vertebral hemanjiomları ile farklı klinik özellikler gösteren bir Bardet-Biedl sendromu olgusu sunuyoruz.

🔖

Cite This Article

KUTLUTÜRK, F. (2022). A patient with Bbs Who had bone deformities and vertebral hemangiomas. Endokrinolojide Diyalog Dergisi, Cilt: 7 - Sayı: 1, 47–49. https://ajindex.com/articles/500794

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Serbest TS, Şahin I, Taşkapan H, Keskin L, Kaya E. End stage renal failure and radial artery tortusity: two uncommon manifestations in bardet-biedl syndrome. Inönü Üniversitesi Tıp Fakültesi Dergisi 2005;12:257-60
  2. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obesity reviews 2002;3:123-35
  3. Roussel B, Leroux B, Gaillard D, Fandre M [Laurence-Moon- Bardet-Biedl syndrome, chronic diffuse tubulo-interstitial nephritis and liver involvement] Helv Pediatr Acta 1985;40:405-13
  4. Balal M, Paydaş S, Karayaylalı I, Seyrek N. Insülin bağımlı diabetes mellituslu ve böbrek yetmezliği olan lmb sendromu. Nefroloji Dergisi 2004;13:177-1
  5. Green JS, Parfrey PS, Harnett JD, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence- Moon-Biedl syndrome. N Engl J Med 1989;321:1002-9
  6. Farag TI, Teebi AS. Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet 1988;33:78-82
  7. Farag TI, Teebi AS. High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 1989;36:463-4
  8. Nicholas Katsanis, James R, Lupski and Philip L. Beales. Exploring the molecular basis of Bardet Biedl Syndrome. Human Moleculer Genetics 2001;10:2293-9
  9. Benzinou M, Walley A, Lobbens S, Charles MA. Bardet-Biedl Syndrome gene variants are associated with both childhood and adult common obesity in french caucasians. Diabetes 2006;55:2876-82
  10. Mykytyn K, Sheffield VC. Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 2004,10,106-9
  11. Heon E, Westall C, Carmi R, Elbedour K. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet 2005;132:283-7
  12. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2007;80:1-11
  13. Badono JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 2003;72:650-8
  14. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003;425:628-33
  15. Soliman AT, Rajab A, AlSalmi