Retinal findings in Bardet-Biedl Syndrome / Journal of the ASEAN Federation of Endocrine Societies
Journal of the ASEAN Federation of Endocrine Societies
;
: 194-196, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-998688
ABSTRACT
@#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.
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polidactilia
/
Síndrome de Bardet-Biedl
/
Degeneração Macular
/
Obesidade
Idioma:
Inglês
Revista:
Journal of the ASEAN Federation of Endocrine Societies
Ano de publicação:
2014
Tipo de documento:
Artigo
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