Subcutaneous nodules, arthropathy, coarse face, cataract and glaucoma: a newly recognized syndrome

Clin Dysmorphol. 2011 Jan;20(1):50-52. doi: 10.1097/MCD.0b013e32833f01ec.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Bone and Bones / diagnostic imaging
  • Cataract / complications*
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons / genetics
  • Facies*
  • Female
  • Glaucoma / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Joint Diseases / complications*
  • Matrix Metalloproteinase 2 / genetics
  • Radiography
  • Subcutaneous Tissue / pathology*
  • Syndrome

Substances

  • Matrix Metalloproteinase 2