Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

Pediatr Radiol. 2017 Jul;47(8):1016-1021. doi: 10.1007/s00247-017-3839-4. Epub 2017 May 10.


Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association. Chromosomal abnormality identified in this patient is consistent with trichorhinophalangeal syndrome type II with no unusual features. Although the nature of these bone cysts is unclear, they are one of the causes of the known increased fracture risk observed in this syndrome.

Keywords: Array-based comparative genomic hybridisation; Bone cysts; Child; Fracture; Langer-Giedion syndrome; Magnetic resonance imaging; Trichorhinophalangeal syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Cysts / diagnostic imaging*
  • Exostoses, Multiple Hereditary / diagnostic imaging*
  • Fractures, Spontaneous / diagnostic imaging*
  • Humans
  • Langer-Giedion Syndrome / diagnostic imaging*
  • Magnetic Resonance Imaging / methods*
  • Male
  • Tomography, X-Ray Computed