Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

Clin Genet. 1993 Jul;44(1):1-7. doi: 10.1111/j.1399-0004.1993.tb03832.x.


A family in whom several members are affected with nail-patella dysplasia is reported because of severe renal involvement and bilateral antecubital pterygia. The family presented as arthrogryposis because of the elbow contractures.

Publication types

  • Case Reports
  • Review

MeSH terms

  • ABO Blood-Group System
  • Adolescent
  • Bone and Bones / abnormalities
  • Elbow / abnormalities*
  • Female
  • Humans
  • Iris / abnormalities*
  • Kidney Diseases / genetics*
  • Male
  • Middle Aged
  • Nail-Patella Syndrome / genetics*


  • ABO Blood-Group System