Spondyloepihyseal Dysplasia Congenita

J Assoc Physicians India. 2016 Jul;64(7):85-86.

Abstract

We describe a case of Spondyloepiphyseal Dysplasia Congenita (SEDc) who presented to our rheumatology clinic with complaints of painful swelling of bilateral elbow, knee, distal and proximal interphalangeal joints (DIP and PIP) of hands and small joints of foot. Patient also complained of restriction during extension of bilateral wrist joint and lateral rotation of neck on both sides. He was also unable to walk without support.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Male
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis
  • Phenotype

Supplementary concepts

  • Spondyloepiphyseal dysplasia, congenita