Pitfalls of genetic counselling in brachydactyly type C

Am J Med Genet. 1994 Nov 1;53(2):199-201. doi: 10.1002/ajmg.1320530216.

Abstract

A familial case of brachydactyly type C is presented in which hand radiographs of the proposita's parents was considered normal. The metacarpophalangeal profile pattern of the mother's hands demonstrated minimal manifestations typical of brachydactyly type C.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Finger Joint / abnormalities
  • Finger Joint / diagnostic imaging
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Genetic Counseling*
  • Hand Deformities, Congenital / classification
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Metacarpus / abnormalities
  • Metacarpus / diagnostic imaging
  • Radiography