Diseases title

Calvarial doughnut lesions - bone fragility )

Sequencing2
Orpha Number: 85192
Synonym(s):
Familial doughnut lesions of skull

This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. It has been observed in approximately 20 individuals. Transmission is autosomal dominant.
source: Orphanet