Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations

Clin Dysmorphol. 2011 Oct;20(4):205-209. doi: 10.1097/MCD.0b013e328348d956.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Exons
  • Femur / abnormalities
  • Fibula / abnormalities
  • Foot Deformities, Congenital / diagnosis*
  • Foot Deformities, Congenital / genetics*
  • Gene Frequency
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Nails, Malformed / diagnosis
  • Nails, Malformed / genetics
  • Pelvic Bones / abnormalities
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Ulna / abnormalities
  • Wnt Proteins / genetics*

Substances

  • WNT7A protein, human
  • Wnt Proteins

Supplementary concepts

  • Fuhrmann syndrome