Smith Lemli Opitz syndrome: a case report

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saima ali
Saffiullah Khalil
Liaqat Ali

Abstract

INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase. This enzyme converts 7-dehydrocholesterol (7DHC) to cholesterol resulting in generalized cholesterol deficiency.1,2 Cases of SLOS can vary widely in their clinical presentation. The most commonly observed features include characteristic dysmorphic features, syndactly, growth retardation, microcephaly, Intellectual disability and ambiguous genitalia.3,4

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How to Cite
ali, saima, S. Khalil, and L. Ali. “Smith Lemli Opitz Syndrome: A Case Report”. KHYBER MEDICAL UNIVERSITY JOURNAL, Vol. 7, no. 1, Mar. 2015, pp. 34-36, https://www.kmuj.kmu.edu.pk/article/view/14092.
Section
Case Report

References

Reference

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