Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures.
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.


CONCLUSIONS
Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.
Kozlowski
K
K
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Masel
J
J
D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental; D001851:Bone Diseases, Metabolic; D004392:Dwarfism; D004551:Elbow Joint; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations; D008297:Male; D010024:Osteoporosis; D010522:Periostitis