Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis

Clin Dysmorphol. 2012 Jul;21(3):144-147. doi: 10.1097/MCD.0b013e3283543224.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Brain / diagnostic imaging
  • Brain / pathology
  • Cisterna Magna / diagnostic imaging
  • Cisterna Magna / pathology*
  • Humans
  • Hypertelorism / pathology
  • Lumbar Vertebrae / abnormalities
  • Lumbar Vertebrae / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle Weakness / pathology
  • Musculoskeletal Diseases / diagnosis*
  • Musculoskeletal Diseases / pathology
  • Osteoarthropathy, Primary Hypertrophic / diagnosis*
  • Osteoarthropathy, Primary Hypertrophic / pathology
  • Radiography
  • Rare Diseases / diagnosis
  • Rare Diseases / pathology
  • Scoliosis / congenital*
  • Scoliosis / diagnosis
  • Scoliosis / pathology
  • Synostosis / diagnosis*
  • Synostosis / pathology
  • Thoracic Vertebrae / abnormalities
  • Thoracic Vertebrae / pathology

Supplementary concepts

  • Spondylocarpotarsal synostosis