BACKGROUND: 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. OBJECTIVE: To define characteristic radiographic features of this syndrome. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.
BACKGROUND: 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. OBJECTIVE: To define characteristic radiographic features of this syndrome. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.
Authors: W Y Park; C I Hwang; M J Kang; J Y Seo; J H Chung; Y S Kim; J H Lee; H Kim; K A Kim; H J Yoo; J S Seo Journal: Biochem Biophys Res Commun Date: 2001-04-13 Impact factor: 3.575
Authors: 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 Journal: J Bone Miner Res Date: 2011-07 Impact factor: 6.741
Authors: Marie Gerhard-Herman; Leslie B Smoot; Nicole Wake; Mark W Kieran; Monica E Kleinman; David T Miller; Armin Schwartzman; Anita Giobbie-Hurder; Donna Neuberg; Leslie B Gordon Journal: Hypertension Date: 2011-11-14 Impact factor: 10.190
Authors: Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins Journal: Nature Date: 2003-04-25 Impact factor: 49.962
Authors: Michelle Olive; Ingrid Harten; Richard Mitchell; Jeanette K Beers; Karima Djabali; Kan Cao; Michael R Erdos; Cecilia Blair; Birgit Funke; Leslie Smoot; Marie Gerhard-Herman; Jason T Machan; Robert Kutys; Renu Virmani; Francis S Collins; Thomas N Wight; Elizabeth G Nabel; Leslie B Gordon Journal: Arterioscler Thromb Vasc Biol Date: 2010-08-26 Impact factor: 8.311
Authors: Leslie B Gordon; Kathleen M McCarten; Anita Giobbie-Hurder; Jason T Machan; Susan E Campbell; Scott D Berns; Mark W Kieran Journal: Pediatrics Date: 2007-10 Impact factor: 7.124
Authors: Melissa A Merideth; Leslie B Gordon; Sarah Clauss; Vandana Sachdev; Ann C M Smith; Monique B Perry; Carmen C Brewer; Christopher Zalewski; H Jeffrey Kim; Beth Solomon; Brian P Brooks; Lynn H Gerber; Maria L Turner; Demetrio L Domingo; Thomas C Hart; Jennifer Graf; James C Reynolds; Andrea Gropman; Jack A Yanovski; Marie Gerhard-Herman; Francis S Collins; Elizabeth G Nabel; Richard O Cannon; William A Gahl; Wendy J Introne Journal: N Engl J Med Date: 2008-02-07 Impact factor: 91.245
Authors: Leslie B Gordon; Monica E Kleinman; Joe Massaro; Ralph B D'Agostino; Heather Shappell; Marie Gerhard-Herman; Leslie B Smoot; Catherine M Gordon; Robert H Cleveland; Ara Nazarian; Brian D Snyder; Nicole J Ullrich; V Michelle Silvera; Marilyn G Liang; Nicolle Quinn; David T Miller; Susanna Y Huh; Anne A Dowton; Kelly Littlefield; Maya M Greer; Mark W Kieran Journal: Circulation Date: 2016-07-12 Impact factor: 29.690
Authors: C M Gordon; R H Cleveland; K Baltrusaitis; J Massaro; R B D'Agostino; M G Liang; B Snyder; M Walters; X Li; D T Braddock; M E Kleinman; M W Kieran; L B Gordon Journal: Bone Date: 2019-05-08 Impact factor: 4.398