Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

Clin Genet. 2017 Sep;92(3):342-343. doi: 10.1111/cge.12990. Epub 2017 Mar 30.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Fetus / diagnostic imaging
  • Fetus / metabolism*
  • Humans
  • Metatarsal Bones / diagnostic imaging*
  • Mutation*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Sequence Analysis, DNA
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Smith-Lemli-Opitz Syndrome / metabolism
  • Syndactyly / diagnostic imaging
  • Syndactyly / etiology*

Substances

  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase