Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome

Am J Med Genet Suppl. 1990:6:48-50. doi: 10.1002/ajmg.1320370608.

Abstract

Metacarpophalangeal pattern profile (MCPP) was determined in 49 radiographs of 40 patients with Rubinstein-Taybi syndrome. Two recognizable hand profiles were seen, depending on the configuration of the thumb and on age. Patients with a straight thumb showed a short first proximal phalanx, and short third medial phalanx. Patients with a radially deviated thumb had a short first proximal phalanx. Depending on age, a relatively large (infancy) or markedly short (older patients) first distal phalanx was found. The similarity between the patients was high. A third group of patients did not show a particular hand profile, but only small hand bones. The pattern variability indices were high in all groups of patients. MCPP analysis in Rubinstein-Taybi syndrome seems to be a powerful, but not pathognomonic, diagnostic tool.

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Fingers / abnormalities
  • Fingers / diagnostic imaging
  • Hand Deformities / diagnostic imaging*
  • Humans
  • Infant
  • Male
  • Metacarpus / abnormalities
  • Metacarpus / diagnostic imaging
  • Middle Aged
  • Radiography
  • Rubinstein-Taybi Syndrome / diagnostic imaging*
  • Thumb / abnormalities
  • Thumb / diagnostic imaging