A syndrome of excessive calcification of bones causing marble like appearance with increased radiological density of the skeleton.
A syndrome of excessive calcification of bones causing marble like appearance with increased radiological density of the skeleton, characterized mainly by multiple fractures. Associated disorders usullay include anaemia, hepatomegaly, poor dentition, visual disorders, hearing disorders, facial paralysis, osteomyelitis of the mandible and maxilla, low blood calcium, and elevated serum phosphorus. Onset is variable.
The autosomal dominant form is clinically innocuous, while the autosomal recessive type is lethal in infancy.
- H. E. Albers-Schönberg:
Projektions-Röntgenbilder einer seltenen Erkrankung. Fortschritte auf dem Gebiete der Röntgenstrahlen, Hamburg, 1903-1904, 7: 158-159.
Röntgenbilder einer seltenen Knochenerkrankung.
Münchener medizinische Wochenschrift, 1904, 51: 365.
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