A Case of Bardet Biedl Syndrome

Year 2008, Volume: 10 Issue: 3, 60 - 63, 01.12.2008

Hakan Uzun Kubilay Ar Alev Aktaş Mustafa Bak

Abstract

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

Keywords

Bardet Biedl syndrome, child

Bardet Biedl Sendromlu Bir Olgu

Abstract

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

Keywords

Bardet Biedl sendromu, çocuk

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