Laurence Moon Bardet Biedl sendromu ve anestezi

Amaç & Hipotez: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.

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Temel Bulgular & Veri:This is significant in that early death often occurs in this condition because of the renal disease.

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Sonuç & Katkı:A twelve year old male patient with Laurence Moon Bardet Biedl syndrome was reported and literature was reviewed.

🔬Tür:Literatür & Derleme Çalışması

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Abstract

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, hypo-genitalism, 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.

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Bu Makaleye Atıf Yap

SAKARYA, M., KELEŞ, T. G., ZEYLAN, F., ÖZASLAN, S. (2022). Laurence Moon Bardet Biedl sendromu ve anestezi. Göztepe Tıp Dergisi, Cilt: 18 - Sayı: 1, 56–57. https://ajindex.com/articles/526480

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Kaynakça (16)

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