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World J Radiol. Oct 28, 2014; 6(10): 808-825
Published online Oct 28, 2014. doi: 10.4329/wjr.v6.i10.808
Published online Oct 28, 2014. doi: 10.4329/wjr.v6.i10.808
Table 1 Set of radiographs obtained in a skeletal survey[1]
Skull (AP and lateral) |
Thoracolumbar spine (AP and lateral) |
Chest (AP) |
Pelvis (AP) |
One upper limb (AP) |
One lower limb (AP) |
Left hand (AP) ( for bone age) |
Table 2 Dysplasias with involvement of axial skeleton
Location | Examples |
Skull | Achondroplasia, Cleidocranial dysplasia |
Mandible | Pyknodysostosis |
Clavicle | Cleidocranial dysplasia |
Ribs | Asphyxiating thoracic dysplasia, Thanatophoric dysplasia |
Spine | Spondyloepiphyseal dysplasia congenita, Mucopolysaccharidoses |
Pelvis | Achondroplasia |
Table 3 Dysplasias with involvement of appendicular skeleton
Type of shortening | Examples | Location of abnormality | Examples |
Rhizomelic | Achondroplasia Spondyloepiphyseal dysplasia congenita | Epiphyseal | Chondrodysplasia punctata Spondyloepiphyseal dysplasia |
Mesomelic | Mesomelic dysplasia | Metaphyseal | Achondroplasia Chondroectodermal dysplasia |
Acromelic | Acrodysostosis | Diaphyseal | Progressive diaphyseal dysplasia |
Micromelic | Achondrogenesis | Combination | Spondylo-epimetaphyseal dysplasia Metatropic dysplasia Mucopolysaccharidoses |
Table 4 Differences between pseudoachondroplasia and achondroplasia
Pseudoachondroplasia | Achondroplasia |
Skull: Normal: “Achondroplasia with normal face” | Skull : Abnormal |
Spine: Platyspondyly + | Spine: Platyspondyly – |
Interpedicular distance normal | Interpedicular distance decreased in lumbar spine |
Epiphyses and metaphyses abnormal | Only metaphyses abnormal |
Trident hand and champagne-glass pelvis absent | Trident hand and champagne-glass pelvis present |
Table 5 Differences between Rhizomelic and Conradi-Hunermann type Chondrodysplasia punctata
Rhizomelic/lethal type | Conradi-Hunermann type |
Inheritance: Autosomal recessive | Inheritance: X-linked dominant |
Symmetric rhizomelic limb shortening | Asymmetric and occasional limb shortening |
Stippling in spine absent/coronal clefts present | Spine: stippling present at endplates and bodies, later leads to kyphoscoliosis |
Stippling noted in large joints, sparing hands and feet Laryngeal and tracheal cartilage stippling also present | Hands and feet also involved in addition to large joints. No extracartilaginous stippling |
Mental retardation present and death in infancy | Compatible with normal intelligence and normal life span |
- Citation: Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol 2014; 6(10): 808-825
- URL: https://www.wjgnet.com/1949-8470/full/v6/i10/808.htm
- DOI: https://dx.doi.org/10.4329/wjr.v6.i10.808