Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review

J Pediatr Orthop B. 2008 Nov;17(6):323-7. doi: 10.1097/BPB.0b013e328311d357.

Abstract

We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. This condition is to be differentiated clinically from generalized hypermobility syndromes specifically Ehlers-Danlos syndrome and Larsen syndrome. The radiographic differential diagnosis is with the group of spondyloepimetaphyseal dysplasias specifically spondyloepimetaphyseal dysplasia with joint laxity and sponastrime dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Bone and Bones / diagnostic imaging
  • Child
  • Diagnosis, Differential
  • Dwarfism / complications
  • Dwarfism / pathology
  • Ehlers-Danlos Syndrome / diagnosis
  • Facial Bones
  • Female
  • Humans
  • Joint Instability / diagnosis*
  • Joint Instability / diagnostic imaging
  • Joint Instability / etiology*
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Radiography