Τρίτη 18 Οκτωβρίου 2016

Bardet biedl syndrome: a rare occurrence

2016-10-18T03-40-29Z
Source: International Journal of Contemporary Pediatrics
Kavita Tiwari, Suresh Meena, Suresh Goyal.
The bardet-biedl syndrome (BBS) is a rare autosomal recessive genetic disorder that affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, kidney abnormalities and learning difficulties. We hereby present a 14 year old male patient exhibiting characteristic features of bardet biedl syndrome (BBS) along with a brief review of the literature.


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