MRI and 1H MRS findings in Smith-lemli-opitz syndrome

Caruso, P. A.; Poussaint, T. Y.; Tzika, A. A.; Zurakowski, D.; Astrakas, L. G.; Elias, E. R.; Bay, C.; Irons, M. B.

doi:10.1007/s00234-003-1110-1

MRI and 1H MRS findings in Smith-lemli-opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by a defect in cholesterol biosynthesis, associated with mental retardation and multisystem structural abnormalities. This study investigated the prevalence of congenital CNS abnormalities by MRI in a large series …