Diagnosis of Smith-Lemli-Opitz syndrome

N Engl J Med. 1994 Jun 9;330(23):1685-6; author reply 1687.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Cholesterol / blood
  • Dehydrocholesterols / blood
  • Fetal Diseases / diagnosis*
  • Humans
  • Limb Deformities, Congenital*
  • Microcephaly / diagnosis*
  • Prenatal Diagnosis
  • Syndrome

Substances

  • Dehydrocholesterols
  • Cholesterol
  • 7-dehydrocholesterol