A boy with severe manifestations of type A1 brachydactyly

Clin Dysmorphol. 1998 Jan;7(1):21-7.


We describe a male with type A1 brachydactyly, a descendant of Drinkwaters second family. In addition to absence of the middle phalanges of his hands and feet he has generalised skeletal abnormalities, nystagmus and a squint. We suggest that his clinical findings represent the more severe manifestations of this autosomal dominant gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone and Bones / abnormalities
  • Female
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / pathology
  • Genes, Dominant
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Nystagmus, Pathologic / genetics
  • Pedigree
  • Phenotype
  • Radiography
  • Strabismus / genetics