The second report of Knobloch syndrome

Am J Med Genet. 1992 Apr 1;42(6):777-9. doi: 10.1002/ajmg.1320420605.

Abstract

Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described.

Publication types

  • Case Reports

MeSH terms

  • Encephalocele / genetics
  • Eye Diseases / genetics
  • Female
  • Humans
  • Male
  • Myopia / genetics*
  • Occipital Bone / abnormalities*
  • Pedigree
  • Pregnancy
  • Retinal Detachment / genetics*
  • Syndrome