[Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].

@article{GarcaFuentes2000BiochemicalDO,
  title={[Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].},
  author={E Garc{\'i}aFuentes and MV iciosoRecio and E delCastilloAcedoDelOlmo and MM atasJurado and M AranaAg{\"u}era and J L{\'o}pezL{\'o}pez},
  journal={Anales espanoles de pediatria},
  year={2000},
  volume={53 5},
  pages={482-7}
}
AIM Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by 7 dehydrocholesterol D7 reductase deficiency that leads to serum cholesterol deficiency and accumulation of the cholesterol precursor, 7 dehydrocholesterol. We report a three-month-old boy with congenital adrenal hyperplasia and clinical diagnosis of this syndrome. This study was… CONTINUE READING