Linked Life Data

14513876

Source:http://linkedlifedata.com/resource/pubmed/id/14513876

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pubmed-article:14513876pubmed:abstractTextLeri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency. The effect of 24 months of recombinant human growth hormone (rhGH) therapy on the stature and BMD of two females with SHOX haploinsufficiency (demonstrated by fluorescence in situ hybridisation) and LWS was evaluated. Both patients demonstrated an increase in height standard deviation score (SDS) and height velocity SDS over the 24 months of therapy. Patient 1 demonstrated a relative increase in arm-span and upper segment measurements with rhGH while patient 2 demonstrated a relative increase in lower limb length. There was appropriate advancement of bone age, no adverse events and no significant deterioration in BMD. In this study, 24 months of rhGH was a safe and effective therapy for the disproportionate short stature of SHOX haploinsufficiency, with no clinical deterioration of BMD.lld:pubmed
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pubmed-article:14513876pubmed:authorpubmed-author:BerryMMlld:pubmed
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pubmed-article:14513876pubmed:volume16lld:pubmed
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pubmed-article:14513876pubmed:pagination997-1004lld:pubmed
pubmed-article:14513876pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:14513876pubmed:year2003lld:pubmed
pubmed-article:14513876pubmed:articleTitleEffect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.lld:pubmed
pubmed-article:14513876pubmed:affiliationEndocrine and Diabetes Research Unit, Royal Children's Hospital Foundation Research Centre, Brisbane, Australia. cmunns@shriners.mcgill.calld:pubmed
pubmed-article:14513876pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:14513876pubmed:publicationTypeClinical Triallld:pubmed
pubmed-article:14513876pubmed:publicationTypeCase Reportslld:pubmed
pubmed-article:14513876pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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