Orthopedics management of acromicric dysplasia: follow up of nine patients

Am J Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139. Epub 2013 Dec 11.


Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age. Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. The aim of our study was to further describe the long-term follow up of AD patients with an emphasis on orthopedic management. Nine patients with FBN1 mutations were included in the study ranging in age from 5.5 to 64 years. For all, detailed clinical and radiological data were available.

Results: Birth parameters were always normal and patients progressively developed short stature <-3 SD. Carpal tunnel syndrome was observed in four patients. We found discrepancy between the carpal bone age and the radius and ulna epiphysis bone ages, a variable severity of hip dysplasia with acetabular dysplasia, epiphyseal and metaphyseal femoral dysplasia resembling Legg-Perthes-Calvé disease and variable pelvic anteversion and hyperlordosis. Orthopedic surgery was required in two patients for hip dysplasia, in one for limb lengthening and in three for carpal tunnel syndrome. Our observations expand the AD phenotype and emphasize the importance of regular orthopedic survey.

Keywords: acromicric dysplasia; carpal tunnel syndrome; hip dysplasia; orthopedic procedure.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics
  • Bone Diseases, Developmental / surgery*
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Child
  • Child, Preschool
  • Female
  • Fibrillin-1
  • Fibrillins
  • Follow-Up Studies
  • Heterozygote
  • Humans
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics
  • Limb Deformities, Congenital / surgery*
  • Male
  • Microfilament Proteins / genetics
  • Middle Aged
  • Mutation
  • Orthopedic Procedures*
  • Orthopedics
  • Radiography
  • Young Adult


  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins

Supplementary concepts

  • Acromicric dysplasia