Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
Sakka S, Gafni R, Davies J, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W. Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2017, 102: 4163-4172. PMID: 28938420, PMCID: PMC5673271, DOI: 10.1210/jc.2017-01102.Peer-Reviewed Original ResearchConceptsHajdu-Cheney syndromeIncreased bone resorptionBP therapyNOTCH2 mutationsLumbar spine bone mineral densityBone resorptionIncreased heterogeneity of mineralizationResponse to bisphosphonate treatmentLumbar spine bone densitySpine bone mineral densityDual-energy X-ray absorptiometryTransiliac bone biopsy specimensQuantitative computed tomography resultsBone histomorphometric characteristicsSpine bone densityPeripheral quantitative computed tomography resultsCortical thicknessResponse to bisphosphonatesX-ray absorptiometryBone mineral densityPeripheral quantitative computed tomographyBone biopsy specimensResponse to BPComputed tomography resultsQuantitative computed tomography