Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

Ann Lab Med. 2017 Jan;37(1):92-94. doi: 10.3343/alm.2017.37.1.92.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / drug therapy
  • Bone Diseases, Developmental / genetics*
  • Child
  • Fibrillin-1 / genetics*
  • Hand / diagnostic imaging
  • Heterozygote
  • Human Growth Hormone / therapeutic use
  • Humans
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / drug therapy
  • Limb Deformities, Congenital / genetics*
  • Male
  • Pelvis / diagnostic imaging

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Human Growth Hormone

Supplementary concepts

  • Acromicric dysplasia