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Syndromes and Diseases Imaging Atlas

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Dysplasia Epiphysealis Hemimelica Sag1.jpg

Maffucci Enchondromas_Hands_1.jpg

Sickle Cell Disease T1.jpg

Thallasemia Coronal.jpg

  • Syndromes and Diseases
    1. Camurati-Engelman Diaphyseal dysplasia
      1. Progressive widening and malformation of shafts of long bones
    2. Caffey disease
      1. Exuberant periosteal new bone in infants especially around mandible
    3. Diaphyseal aclasis
      1. Hereditary multiple exostosis
    4. Felty's syndrome
      1. Neutropenia, splenomegaly, RA
    5. Gaucher disease
      1. Erlenmyer flask deformity
      2. H-shaped vertebrae
      3. Femoral head AVN
      4. Bone infarctions
      5. HSM
    6. Jaffe-Campanacci syndrome
      1. Multiple NOF
      2. Cafe-au-Lait spots
      3. Cryptorchidism
      4. CV malformations
    7. Klippel-Feil
      1. Failure of cervical segmentation
      2. Sprengel deformity - tethering of the scapula to the cervical spine by a fibrous band or anomalous bone
    8. Maffucci syndrome
      1. Multiple enchondromas and soft tissue hemangiomas
    9. Mazabraud
      1. Polyostotic fibrous dysplasia
      2. Intramuscular myxomas
    10. McCune-Albright
      1. Polyostotic fibrous dysplasia
        1. Long bones, ribs and skull
      2. Cafe au lait spots
      3. Autonomous endocrine hyperfunction
        1. Precocious puberty
    11. Reflex sympathetic osteodystrophy
      1. History of trauma, pain
      2. Soft tissue swelling
      3. Osteoporosis
    12. Ollier disease
      1. Multiple enchondromas
    13. SAPHO
      1. Synovitis
      2. Acne
      3. Pustulosis
      4. Hyperostosis (proximal clavicles)
      5. Osteitis
  • Sarcoidosis
    1. Lace-like lytic lesions
  • Hemophilia
    1. Epiphyseal overgrowth
    2. Gracile diaphyses
    3. Enlarged radial head in the elbow
    4. Wide intercondylar notch in the knee
    5. Pseudotumor (intraosseous, subperiosteal or soft tissue bleeding).
  • Sickle cell disease
    1. H-shaped vertebra
    2. Bone infarcts
    3. Hand-foot syndrome
      1. Dactylitis (soft tissue swelling) with periosteal reaction
        1. Cold temperatures result in vasoconstriction in the persistent hematopoietic marrow in the digits
  • Leukemia
    1. Leukemic lines
      1. Lucent metaphyseal bands which result from disturbed endochnodral ossification
  • Schuerman disease
    1. Thoracic vertebral body wedging
    2. End-plate irregularities
    3. Disk space narrowing
  • Skeletal dysplasias
    1. Cleidocranial dysplasia
      1. Abnormal development of membranous bones
      2. Persistent metopic suture
      3. Partial or complete absence of clavicle
      4. Wide symphysis pubis
      5. Wormian bones
    2. OI
      1. Multiple fx-s
      2. Blue sclera
      3. Basilar invagination
      4. Wormian bones
    3. Dwarfism
      1. Achondroplasia
        1. Anterior vertebral body beaking
        2. Posterior vertebral body scalloping
        3. Interpedicular distance narrows in the lumbar spine
        4. Short long bones with flared metaphyses
      2. Fatal dwarfisms
        1. Achondrogenesis
        2. Thanatophoric dwarfism
    4. Radial dysplasias
      1. Madelung deformity - distal radius bowing
      2. Holt-Oram syndrome - congenital heart disease and thumb/radius abnormalities (triphalangeal thumb)
      3. TAR - throbocytopenia, absent radius
      4. Radial club hand
      5. Fanconi anemia
      6. Congenital radioulnar synostosis
  • MPS
  • NF
    1. Skeletal findings are due to diffuse mesodermal dysplasia
    2. Kyphoscoliosis at T3-T7
    3. Posterior vertebral body scalloping
    4. Hypoplastic sphenoid wing, posterosuperior orbital wall, mastoid
    5. Anterior distal tibial bowing
    6. Multiple NOF
    7. Ribbon ribs
  • Klippel-Trenaunay-Weber syndrome
    1. Macromelia associated with a cutaneous capillary hemangioma