Oral-facial-digital syndrome type 1: unique radiological findings

Clin Dysmorphol. 2012 Apr;21(2):77-79. doi: 10.1097/MCD.0b013e32834e9261.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Exons
  • Facies
  • Female
  • Femur / abnormalities
  • Femur / diagnostic imaging
  • Foot Deformities, Congenital / pathology
  • Frameshift Mutation
  • Hand Deformities, Congenital / pathology
  • Heterozygote
  • Humans
  • Orofaciodigital Syndromes / diagnosis
  • Orofaciodigital Syndromes / diagnostic imaging*
  • Orofaciodigital Syndromes / genetics
  • Proteins / genetics
  • Radiography
  • Radius / abnormalities
  • Radius / diagnostic imaging

Substances

  • OFD1 protein, human
  • Proteins

Supplementary concepts

  • Orofaciodigital syndrome type1