Short limb skeletal dysplasia

Short limb skeletal dysplasias are skeletal dysplasias which are charcaterised by limb shortening

Classification

Rhizomelic (proximal limb shortening)
Mesomelic (middle segment limb shortening)
Acromesomelic (middle and distal segment limb shortening)
Acromelic (distal segment shortening)
  • asphyxiating thoracic dysplasia/Jeune's syndrome
    • narrow thorax with short ribs leading to respiratory distress
    • spur-like projections of the acetabular roof. Premature ossification of the femoral capital epiphyses
    • occasional postaxial hexadactyly
    • cone-shaped epiphyses in childhood
  • peripheral dysostosis

See also

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Article information

rID: 12113
Tag: refs
Synonyms or Alternate Spellings:
  • Short limb skeletal dysplasias

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Cases and figures

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    Case 1: achondroplasia
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    Case 2: achondroplasia
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