Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome

Am J Med Genet. 1994 Nov 15;53(3):227-35. doi: 10.1002/ajmg.1320530306.


The dermatoglyphic patterns of fingertips and palms of 115 patients with Williams-Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be characteristic to WBS: an excess of whorls on all fingertips; high termination values of the main lines D, B, and A; frequent absence of C triradius (C0); high frequencies of ulnar loops on the hypothenar and distal loops on the 2nd, 3rd, and 4th interdigital areas, of distal axial triradii t", and of abnormal palmar creases such as simian crease and Sydney lines. The combination of fingertip and palmar patterns expressed by a "Log.Score-Index," provides a high degree of discrimination between the WBS patients (92%) and the control group (88%). A "phantom picture" for WBS was constructed, which can be used for its diagnosis.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Case-Control Studies
  • Chi-Square Distribution
  • Dermatoglyphics*
  • Face / abnormalities
  • Female
  • Genes, Dominant
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Logistic Models
  • Male
  • Syndrome