Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review

Prenat Diagn. 2019 Jul;39(8):652-655. doi: 10.1002/pd.5494. Epub 2019 Jul 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Female
  • Gestational Age
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics
  • Mutation
  • Orofaciodigital Syndromes / diagnosis*
  • Orofaciodigital Syndromes / genetics
  • Orofaciodigital Syndromes / pathology
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis / methods*
  • Siblings
  • Ultrasonography, Prenatal

Substances

  • CPLANE1 protein, human
  • Membrane Proteins

Supplementary concepts

  • Orofaciodigital syndrome 6