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Case 132 

Case 132
Chapter:
Case 132
Author(s):

Ellen Chung

DOI:
10.1093/med/9780199758968.003.0132
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date: 16 February 2019

Newborn with respiratory distress.

Plain radiographs reveal diffuse osteopenia, collapsed vertebral bodies, small thorax with beaded ribs, and short, widened, and crumpled long bones with thin cortices (accordion femora).

The osteopenia and bowing deformities suggest OI type II. The skull would show absent or poor ossification. Lethal skeletal dysplasias also include thanatophoric dysplasia and asphyxiating thoracic dysplasia. Both have short but not beaded ribs. Thanatophoric dysplasia is distinguished by true platyspondyly and telephone-receiver femora. Kleeblatschädel is seen in some patients with thanatophoric dysplasia. Asphyxiating thoracic dysplasia is distinguished by a normal spine and cone-shaped epiphyses. For older infants with other types of OI, the main differential consideration is inflicted trauma. Inflicted trauma in young infants usually involves fractures of the metaphysis rather than diaphysis and absence of the osteoporosis, cortical thinning, blue sclera, and wormian bones characteristic of OI. The hypothesized existence of so-called “temporary brittle bone disease” been examined in several reviews that are highly critical of the methodology used to support it....

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