@article{ali_Khalil_Ali_2015, title={Smith Lemli Opitz syndrome: a case report}, volume={7}, url={https://www.kmuj.kmu.edu.pk/article/view/14092}, abstractNote={<p><strong>INTRODUCTION; </strong>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.<sup>1,2 </sup>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.<sup>3,4</sup></p>}, number={1}, journal={KHYBER MEDICAL UNIVERSITY JOURNAL}, author={ali, saima and Khalil, Saffiullah and Ali, Liaqat}, year={2015}, month={Mar.}, pages={34–36} }