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  2. Calvarial doughnut lesions with bone fragility

Calvarial doughnut lesions with bone fragility

Definition:

Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, increased spinal and peripheral fractures, and sclerotic, doughnut-shaped lesions in the cranial bones. Novel heterozygous pathogenic variants in the sphingomyelin synthase 2 gene (SGMS2) have been identified.

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