Özet:

Laurence Moon Bardet Biedl is a congenital syndrome which is rarely seen and accompanied by multipl anomalies including skeleton and viscera. This case report describes the presentation of a child with Bardet-Biedl syndrome. Bardet-Biedl syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The most common feature of Bardet-Biedl syndrome is retinal dystrophy. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. This is significant in that early death often occurs in this condition because of the renal disease. A twelve year old male patient with Laurence Moon Bardet Biedl syndrome was reported and literature was reviewed.

Anahtar Kelimeler: