A case of bardet biedl syndrome
Yıl: 2008 Cilt: 0 Sayı: 3 Sayfa Aralığı: 60 - 63 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022
A case of bardet biedl syndrome
Öz: Bardet Biedl sendromu, geniş klinik yelpazesi olan otozomal resesif geçişli nadir bir durumdur. Retinal distrofi, obezite, polidaktili, erkek hipogonadizmi, mental retardasyon ve renal fonksiyon kaybı, tanı için kabul edilen major kriterleri oluşturur. Bu sendromun karakteristik özelliklerini gösteren 11 yaşında bir erkek çocuk sunduk. Bu sendrom doğrultusunda Bardet Biedl sendromu ile ilgili literatürler de gözden geçirildi
Anahtar Kelime: Konular:
Bardet biedl sendromlu bir olgu
Öz: Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyl, male hypogonadism, mental retardation and renal dysfunction. We presented an 11 years old boy patient exhibiting characteristic features of this syndrome. In the light of this case, the literature about Bardet Biedl syndrome was reviewed.
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Diğer Erişim Türü: Erişime Açık
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| APA | Uzun H, AR K, AKTAŞ A, Bak M (2008). A case of bardet biedl syndrome. , 60 - 63. |
| Chicago | Uzun Hakan,AR Kubilay,AKTAŞ Alev,Bak Mustafa A case of bardet biedl syndrome. (2008): 60 - 63. |
| MLA | Uzun Hakan,AR Kubilay,AKTAŞ Alev,Bak Mustafa A case of bardet biedl syndrome. , 2008, ss.60 - 63. |
| AMA | Uzun H,AR K,AKTAŞ A,Bak M A case of bardet biedl syndrome. . 2008; 60 - 63. |
| Vancouver | Uzun H,AR K,AKTAŞ A,Bak M A case of bardet biedl syndrome. . 2008; 60 - 63. |
| IEEE | Uzun H,AR K,AKTAŞ A,Bak M "A case of bardet biedl syndrome." , ss.60 - 63, 2008. |
| ISNAD | Uzun, Hakan vd. "A case of bardet biedl syndrome". (2008), 60-63. |
| APA | Uzun H, AR K, AKTAŞ A, Bak M (2008). A case of bardet biedl syndrome. Düzce Tıp Fakültesi Dergisi, 0(3), 60 - 63. |
| Chicago | Uzun Hakan,AR Kubilay,AKTAŞ Alev,Bak Mustafa A case of bardet biedl syndrome. Düzce Tıp Fakültesi Dergisi 0, no.3 (2008): 60 - 63. |
| MLA | Uzun Hakan,AR Kubilay,AKTAŞ Alev,Bak Mustafa A case of bardet biedl syndrome. Düzce Tıp Fakültesi Dergisi, vol.0, no.3, 2008, ss.60 - 63. |
| AMA | Uzun H,AR K,AKTAŞ A,Bak M A case of bardet biedl syndrome. Düzce Tıp Fakültesi Dergisi. 2008; 0(3): 60 - 63. |
| Vancouver | Uzun H,AR K,AKTAŞ A,Bak M A case of bardet biedl syndrome. Düzce Tıp Fakültesi Dergisi. 2008; 0(3): 60 - 63. |
| IEEE | Uzun H,AR K,AKTAŞ A,Bak M "A case of bardet biedl syndrome." Düzce Tıp Fakültesi Dergisi, 0, ss.60 - 63, 2008. |
| ISNAD | Uzun, Hakan vd. "A case of bardet biedl syndrome". Düzce Tıp Fakültesi Dergisi 3 (2008), 60-63. |
