Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease

Pediatr Radiol. 1981;10(4):247-9. doi: 10.1007/BF01001593.


A child with Werner's mesomelic dysplasia is presented. She has five fingers on each hand with absent thumbs and seven toes on each foot. There is posterior dislocation at the knees and mild tibial dysplasia. The child also has a ventricular septal defect (VSD) and Hirschsprung's disease. This is the first case reported of Werner's mesomelic dysplasia associated with systemic malformations.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Bone Diseases, Developmental / complications*
  • Bone Diseases, Developmental / diagnostic imaging
  • Female
  • Fingers / abnormalities
  • Heart Septal Defects, Ventricular / complications*
  • Humans
  • Infant, Newborn
  • Megacolon / complications*
  • Radiography
  • Thumb / abnormalities
  • Toes / abnormalities