Genetic counseling in limb reduction defects

Genet Couns. 1994;5(3):243-8.

Abstract

During several years experience in a multidisciplinary out-patient clinic for children with congenital hand malformations a systematic approach was devised to arrive at an accurate diagnosis and recurrence risk in patients with congenital limb reduction defects. Classification and diagnostic work-up was done according to a protocol, derived from data in the literature and from our own experience. This protocol is described for the different types of congenital upper limb reduction defects.

Publication types

  • Review

MeSH terms

  • Ectromelia / classification
  • Ectromelia / genetics*
  • Female
  • Genetic Carrier Screening
  • Genetic Counseling*
  • Hand Deformities, Congenital / classification
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Phenotype
  • Pregnancy
  • Risk Factors