Literature DB >> 1477072

Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems.

F Fernandez-Palazzi1, A T McLaren, D F Slowie.   

Abstract

Hutchinson-Gilford progeria is a very rare syndrome of premature aging and often features many orthopedic abnormalities. This is a case report on a young boy suffering from progeria. His orthopedic history included bilateral talus deformities of the feet, bilateral dislocated hips, pes planus, a fractured femur (which healed without complications), aseptic necrosis in the left nuclear head of the femur, bilateral fixed hip flexion deformities, bone dysplasia, osteoporosis and osteolysis.

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Year:  1992        PMID: 1477072     DOI: 10.1055/s-2008-1063486

Source DB:  PubMed          Journal:  Eur J Pediatr Surg        ISSN: 0939-7248            Impact factor:   2.191


  6 in total

1.  An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria.

Authors:  Brandon S J Davies; Richard H Barnes; Yiping Tu; Shuxun Ren; Douglas A Andres; H Peter Spielmann; Jan Lammerding; Yibin Wang; Stephen G Young; Loren G Fong
Journal:  Hum Mol Genet       Date:  2010-04-26       Impact factor: 6.150

2.  Mice that express farnesylated versions of prelamin A in neurons develop achalasia.

Authors:  Shao H Yang; Shiri Procaccia; Hea-Jin Jung; Chika Nobumori; Angelica Tatar; Yiping Tu; Yulia R Bayguinov; Sung Jin Hwang; Deanna Tran; Sean M Ward; Loren G Fong; Stephen G Young
Journal:  Hum Mol Genet       Date:  2015-02-04       Impact factor: 6.150

Review 3.  The posttranslational processing of prelamin A and disease.

Authors:  Brandon S J Davies; Loren G Fong; Shao H Yang; Catherine Coffinier; Stephen G Young
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

4.  Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report.

Authors:  Suzanne M Yandow; David L Rimoin; Aimee M Grace; Ramona R Fillman; Ellen M Raney
Journal:  J Pediatr Orthop B       Date:  2009-05       Impact factor: 1.041

Review 5.  Investigating the purpose of prelamin A processing.

Authors:  Brandon Sj Davies; Catherine Coffinier; Shao H Yang; Richard H Barnes; Hea-Jin Jung; Stephen G Young; Loren G Fong
Journal:  Nucleus       Date:  2011 Jan-Feb       Impact factor: 4.197

6.  The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.

Authors:  Dayle McClintock; Desiree Ratner; Meepa Lokuge; David M Owens; Leslie B Gordon; Francis S Collins; Karima Djabali
Journal:  PLoS One       Date:  2007-12-05       Impact factor: 3.240

  6 in total

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