Severe, atypical form of dyschondrosteosis (report of two cases)

Eur J Pediatr. 2005 Sep;164(9):539-43. doi: 10.1007/s00431-005-1691-2. Epub 2005 Jun 10.

Abstract

We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found.

Conclusion: Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ellis-Van Creveld Syndrome / diagnostic imaging
  • Ellis-Van Creveld Syndrome / genetics*
  • Ellis-Van Creveld Syndrome / pathology*
  • Female
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Point Mutation
  • Radiography
  • Severity of Illness Index
  • Short Stature Homeobox Protein
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • Transcription Factors