Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Eur J Hum Genet. 2009 Jan;17(1):129-32. doi: 10.1038/ejhg.2008.168. Epub 2008 Oct 1.


We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf-Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb. This deletion contains the FGFRL1 gene, but does not include the WHSC1 gene. Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf-Hirshhorn syndrome in 4p16.3 deletion patients.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 4 / genetics*
  • Diseases in Twins / genetics*
  • Face / abnormalities*
  • Female
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Receptor, Fibroblast Growth Factor, Type 5 / genetics*
  • Repressor Proteins / genetics
  • Wolf-Hirschhorn Syndrome / genetics*


  • FGFRL1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 5
  • Repressor Proteins
  • Histone-Lysine N-Methyltransferase
  • NSD2 protein, human