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Vasikarla Madhavi
Vasikarla Madhavi
India
Publications
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Case Report
Suspected Smith-Lemli-Opitz-Syndrome: A Very Rare Syndrome
Author(s): Deepak Sharma, Aakash Pandita, Srinivas Murki, Tejo Pratap and Vasikarla MadhaviDeepak Sharma, Aakash Pandita, Srinivas Murki, Tejo Pratap and Vasikarla Madhavi
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism for cholesterol synthesis. The enzyme defect involved in the syndrome is mutation of 7-Dehydrocholesterol reductase (DHCR7) which leads to increase in plasma concentration of 7- and 8-dehydrocholesterol (DHC) levels. The affected patients have different presentation and usually involve all systems of the body. We report a newborn who was diagnosed as case of SLOS on the basis of clinical and biochemical investigation. .. View More»