RAPADILINO syndrome

Am J Med Genet. 1992 Dec 1;44(6):716-9. doi: 10.1002/ajmg.1320440604.

Abstract

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Anal Canal / abnormalities
  • Child
  • Dwarfism*
  • Face / abnormalities*
  • Heart Septal Defects, Atrial*
  • Humans
  • Limb Deformities, Congenital*
  • Male
  • Patella / abnormalities
  • Syndrome