Genetic nosology and counseling of humeroradial synostosis

Genet Couns. 1994;5(3):269-74.


From published cases of humeroradial synostoses three entities can be delineated: AD ankylosis of the elbow as a part of a systemic disorder causing multiple synostoses (symphalangism), AR humeroradial synostosis with dysgenesis of the ulna (and fibula?) but without oligodactyly as part of a syndromal disorder, non-germinal uni- or bilateral humeroradial synostosis as part of ulnar malformation and oligodactyly. Three new observations are considered examples of the latter entity.

Publication types

  • Case Reports

MeSH terms

  • Ectromelia / diagnostic imaging
  • Ectromelia / genetics*
  • Female
  • Genetic Counseling*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics
  • Humans
  • Humerus / abnormalities*
  • Humerus / diagnostic imaging
  • Infant, Newborn
  • Male
  • Radiography
  • Radius / abnormalities*
  • Radius / diagnostic imaging
  • Synostosis / diagnostic imaging
  • Synostosis / genetics*