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BARDET-BIEDL SYNDROME

Authors :
EROL, Nurdan
TÜRKMEN, Aysu
ÖZGÜNER, Ahmet
YAVRUCU, Serpil
ERZİK, Can
ÖZER, Kürşat
Source :
Volume: 13, Issue: 3 156-161, Marmara Medical Journal
Publication Year :
2016
Publisher :
Marmara Üniversitesi, 2016.

Abstract

A 3,5-year-old boy was admitted with febrile convulsion and bronchitis. He had polydactyly, obesity, and micropenis on his physical examination which indicated the Bardet Biedl syndrome. Then further investigations were made to make the definitive diagnosis, in the light of literature. We would like to present this case report.Key Words: Bardet Biedl syndrome, Obesity, Retinitis pigmentosa, Hypogonadism, Mental retardation, Polydactyly.

Details

ISSN :
10191941 and 13099469
Database :
OpenAIRE
Journal :
Volume: 13, Issue: 3 156-161, Marmara Medical Journal
Accession number :
edsair.tubitakulakb..41c0455838309ba4ae6bf132a605d4d5