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.
References:
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[1]. E Jaakkola, et al. Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. Am J Med Genet A. 2009 Nov;149A(11):2371-7. [Content Brief]
[2]. Minna Pekkinen, et al. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI Insight. 2019 Apr 4;4(7):e126180. [Content Brief]
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