✦ LIBER ✦

Hutchinson-gilford progeria is a skeletal dysplasia

✍ Scribed by Catherine M Gordon; Leslie B Gordon; Brian D Snyder; Ara Nazarian; Nicolle Quinn; Susanna Huh; Anita Giobbie-Hurder; Donna Neuberg; Robert Cleveland; Monica Kleinman; David T Miller; Mark W Kieran

Publisher: American Society for Bone and Mineral Research
Year: 2011
Tongue: English
Weight: 326 KB
Volume: 26
Category: Article
ISSN: 0884-0431
DOI: 10.1002/jbmr.392

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

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.

📜 SIMILAR VOLUMES

Can Hutchinson-Gilford progeria syndrome

Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

✍ Faivre, L.; Van Kien, Ph. Khau; Madinier-Chappat, N.; Nivelon-Chevallier, A.; Be 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

reported on a fetus with neonatal Hutchinson-Gilford progeria syndrome (HGPS) in a recent issue of this journal. We have been involved with a similar child with some manifestations in common with this fetus. We suggest that a diagnosis of neonatal HGPS is incorrect in both cases and, in fact, that H

An association of Hutchinson–Gilford pro

An association of Hutchinson–Gilford progeria and malignancy

✍ Stavit A. Shalev; Annachiara De Sandre-Giovannoli; Ayelet Adir Shani; Nicolas Le 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB

Del(1)(q23) in a patient with Hutchinson

Del(1)(q23) in a patient with Hutchinson-Gilford progeria

✍ Delgado Luengo, Wilmer ;Rojas Martínez, Augusto ;Ortíz López, Rocío ;Martínez Ba 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB

A novel b(1-4)galactosyltransferase gene

A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria

✍ M.E. O’Brien; A.S. Weiss 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB

A homozygous ZMPSTE24 null mutation in c

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

✍ Jonas Denecke; Thomas Brune; Tobias Feldhaus; Horst Robenek; Christian Kranz; Ri 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A