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Journal of the ASEAN Federation of Endocrine Societies ; : 194-196, 2014.
Artigo em Inglês | WPRIM | ID: wpr-998688

RESUMO

@#We report three cases of Bardet-Biedl syndrome (BBS) among which a young female and two siblings from a separate family, presented with common features of obesity, postaxial (ulnar) polydactyly, speech delay, developmental delay with learning difficulties and progressive deterioration of vision. Fundus examination revealed maculopathy and other remarkable findings in these patients. In this image of endocrinology, we describe the BBS phenotypes of these cases highlighting the fundus photography features with a plan for close follow up on obesity and endocrine complications.


Assuntos
Polidactilia , Obesidade , Degeneração Macular , Síndrome de Bardet-Biedl
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