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Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures (1999)

Kozlowski, K. ; Masel, J.

Springer

European journal of pediatrics 158 (1999), S. 308-311

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ISSN: 1432-1076

Keywords: Key words Mesomelic dysplasia ; Periostitis ; Radio-humeral dislocation ; Osteoporosis Collagenopathy

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. Electrophoresis of fibroblast collagens detected defects in type III and type V collagen. Conclusion Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s004310051078

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