Fisiopatologia De Smith: Thier

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome that was first described by American pediatricians David W. Smith, Luc Lemli, and John M. Opitz in 1964. It is now recognized as one of the most common inborn errors of cholesterol metabolism. The disorder is characterized by a classic triad of microcephaly, distinctive facial features, and syndactyly of the second and third toes, alongside a wide spectrum of visceral, neurological, and growth abnormalities.

In a healthy individual, the reaction proceeds as: Fisiopatologia De Smith Thier

Understanding the pathophysiology of SLOS requires a deep dive into the mevalonate-cholesterol biosynthesis pathway and the pleiotropic effects of cholesterol deficiency during embryogenesis and postnatal development. distinctive facial features