Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome)

Fetal demise with Smith–Lemli–Opitz synd

Fetal demise with Smith–Lemli–Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Δ7-reductase activity in chorionic villi

✍ L. M. Linck; S. J. Hayflick; D. S. Lin; K. P. Battaile; S. Ginat; T. Burlingame; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 2 views

Smith±Lemli±Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the ®nal enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol D 7 -reductase (DHCR7). We diagnosed SLOS i