Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
Gargi Ramesh Rekhawar,
M. P. Bhavana,
Vishal Dnyaneshwar Sawant
et al.
Abstract:Background
Bardet-Biedl syndrome (BBS) is a rare multisystemic autosomal recessive (AR) disorder, which falls under the spectrum of ciliopathic disorders. As BBS is a very rare entity in India, its diagnosis is most often missed during early child visits. The lack of a syndromic approach for diagnosing genetic disorders by health care physicians is being considered a major blackguard. The following case report exemplifies how a patient presenting with multisystemic involvement should be evaluat… Show more
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