A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

作者：Cleveland Robert H^*; Gordon Leslie B; Kleinman Monica E; Miller David T; Gordon Catherine M; Snyder Brian D; Nazarian Ara; Giobbie Hurder Anita; Neuberg Donna; Kieran Mark W

来源：Pediatric Radiology, 2012, 42(9): 1089-1098.

DOI：10.1007/s00247-012-2423-1

• Progeria
• Phenotype
• Skeletal findings
• Frequency
• Children

Progeria is a rare segmental premature aging disease with significant skeletal abnormalities. Defining the full scope of radiologic abnormalities requires examination of a large proportion of the world's progeria population (estimated at 1 in 4 million). There has been no comprehensive prospective study describing the skeletal abnormalities associated with progeria.
To define characteristic radiographic features of this syndrome.
Thirty-nine children with classic progeria, ages 2-17 years, from 29 countries were studied at a single site. Comprehensive radiographic imaging studies were performed.
Sample included 23 girls and 16 boys-the largest number of patients with progeria evaluated prospectively to date. Eight new and two little known progeria-associated radiologic findings were identified (frequencies of 3-36%). Additionally, 23 commonly reported findings were evaluated. Of these, 2 were not encountered and 21 were present and ranked according to their frequency. Nine abnormalities were associated with increasing patient age (P = 0.02-0.0001).
This study considerably expands the radiographic morphological spectrum of progeria. A better understanding of the radiologic abnormalities associated with progeria and improved understanding of the biology of progerin (the molecule responsible for this disease), will improve our ability to treat the spectrum of bony abnormalities.

• 出版日期2012-9