Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2.

ABSTRACT:

Objective

To characterize relationships between quantitative computed tomography bone mineral density measurements and other qualitative and quantitative imaging measures, as well as clinical metrics, in patients with autosomal dominant osteopetrosis type 2 (ADO2).

Materials and methods

Clinical and radiologic parameters of 9 adults and 3 children with autosomal dominant osteopetrosis type 2 were assessed including lumbar spine quantitative computed tomography (QCT), radiographic skeletal survey (skull base thickening; Erlenmeyer flask deformity; endobone pattern; and spine density pattern (endplate sclerosis, "anvil" appearance, or diffuse sclerosis)), dual-energy x-ray absorptiometry (DXA), tibial peripheral quantitative computed tomography (pQCT) volumetric bone mineral d

SUBMITTER: Ladd LM 

PROVIDER: S-EPMC8009803 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature