Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family

Am J Med Genet. 1991 Jan;38(1):9-12. doi: 10.1002/ajmg.1320380103.

Abstract

We report on 4 persons in a 3-generation Brazilian family presenting the nail-patella syndrome. Cleft lip/palate in one patient and antecubital pterygium in 3 of the reported patients are unusual findings related to this condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Diseases, Developmental / congenital
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Brazil
  • Cleft Lip / complications*
  • Cleft Palate / complications*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Nails / diagnostic imaging
  • Nails, Malformed
  • Patella / abnormalities
  • Pedigree
  • Pterygium / complications*
  • Radiography
  • Syndrome