Hutchinson‐gilford progeria is a skeletal dysplasia

• Published in: Journal of bone and mineral research Vol. 26; no. 7; pp. 1670 - 1679
• Main Authors: Gordon, Catherine M, Gordon, Leslie B, Snyder, Brian D, Nazarian, Ara, Quinn, Nicolle, Huh, Susanna, Giobbie‐Hurder, Anita, Neuberg, Donna, Cleveland, Robert, Kleinman, Monica, Miller, David T, Kieran, Mark W
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2011; Wiley; Wiley Subscription Services, Inc
• Subjects: Absorptiometry, Photon; Adolescent; Age Determination by Skeleton; Anthropometry; Biological and medical sciences; Body Height; Bone and Bones - abnormalities; Bone and Bones - diagnostic imaging; Bone and Bones - physiopathology; Bone densitometry; Bone Density; Bone mineralization; Bone QCT; Bone Remodeling - physiology; Child; Child, Preschool; Clinical/pediatrics; Female; Fundamental and applied biological sciences. Psychology; Growth Plate - diagnostic imaging; Growth Plate - pathology; Humans; Male; Nutritional Physiological Phenomena; Osteoporosis; Progeria - pathology; Progeria - physiopathology; Skeleton and joints; Tomography, X-Ray Computed; Vertebrates: osteoarticular system, musculoskeletal system; CLINICAL/PEDIATRICS; Skin disease; Dysplasia; BONE DENSITOMETRY; Diseases of the osteoarticular system; BONE MINERALIZATION; BONE QCT; Dwarfism; Osteoarticular system; Osteoporosis; Vertebrata; Mammalia; Mineralization; Progeria; Densitometry; Bone
• ISSN: 0884-0431; 1523-4681
• DOI: 10.1002/jbmr.392

Hutchinson‐Gilford progeria syndrome (HGPS) is a rare segmental premature aging disorder that affects bone and body composition, among other tissues. We sought to determine whether bone density and structural geometry are altered in children with HGPS and whether relationships exist among these parameters and measures of skeletal anthropometry, body composition, and nutrition. We prospectively enrolled 26 children with HGPS (ages 3.1 to 16.2 years). Outcomes included anthropometric data; bone age; areal bone mineral density (aBMD) and body composition by dual‐energy X‐ray absorptiometry (DXA); volumetric bone mineral density (vBMD), strength‐strain index (SSI), and bone structural rigidity calculated from radial transaxial peripheral quantitative computed tomographic (pQCT) images; serum bone biomarkers and hormonal measures; and nutrition assessments. Children with HGPS had low axial aBMD Z‐scores by DXA, which improved after adjustment for height age, whereas differences in radial vBMD by pQCT were less striking. However, pQCT revealed distinct abnormalities in both novel measures of bone structural geometry and skeletal strength at the radius compared with healthy controls. Dietary intake was adequate, confirming that HGPS does not represent a model of malnutrition‐induced bone loss. Taken together, these findings suggest that the phenotype of HGPS represents a unique skeletal dysplasia. © 2011 American Society for Bone and Mineral Research.