Literature DB >> 15316968

Growth hormone deficiency in Costello syndrome.

Robert I Stein1, Laurent Legault, Denis Daneman, Rosanna Weksberg, Jill Hamilton.   

Abstract

We report on three patients with Costello syndrome and isolated growth hormone (GH) deficiency treated with biosynthetic GH. To our knowledge, these are the only patients with Costello syndrome who have been successfully treated for GH deficiency. We review the pathophysiology of Costello syndrome and highlight the recent recommendations of tumor screening and cardiac surveillance in this population, of particular relevance to those receiving GH therapy. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID: 15316968     DOI: 10.1002/ajmg.a.30187

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

1.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

2.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

3.  Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients.

Authors:  Pen-Hua Su; Jia-Yuh Chen; Ju-Shan Yu; Suh-Jen Chen; Shun-Fa Yang
Journal:  Hum Genet       Date:  2011-01-05       Impact factor: 4.132

4.  Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Authors:  Dogus Vuralli; Can Kosukcu; Ekim Taskiran; Pelin Ozlem Simsek-Kiper; Gulen Eda Utine; Koray Boduroglu; Ayfer Alikasifoglu; Mehmet Alikasifoglu
Journal:  Mol Syndromol       Date:  2020-09-16

5.  Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Authors:  Ewa Blachowska; Elżbieta Petriczko; Anita Horodnicka-Józwa; Agata Skórka; Magdalena Pelc; Małgorzata Krajewska-Walasek; Mieczysław Walczak
Journal:  Ital J Pediatr       Date:  2016-01-26       Impact factor: 2.638

  5 in total

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