Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation

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• 作者：Ewa Blachowska ; Elżbieta Petriczko ; Anita Horodnicka-Józwa…
• 关键词：Costello syndrome ; Growth hormone deficiency ; Hypertrophic cardiomyopathy ; Malignancy ; HRAS gene
• 刊名：Italian Journal of Pediatrics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：42
• 期：1
• 全文大小：2,455 KB
• 参考文献：1.Gripp KW, Lin AE. Costello Syndrome. GeneReviews® University of Washington, Initial Posting: August 29, 2006; Last Update: January 12, 2012.
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  3.Kerr B, Delrue M-A, Sigaudy S, Perveen R, Marche M, Burgelin I, et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet. 2006;43:401–5. doi:10.​1136/​jmg.​2005.​040352 .PubMedCentral CrossRef PubMed
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  6.Kerr B, Eden B, Dandamudi R, Shannon N, Quarrell O, Emmerson A, et al. Costello syndrome: two cases with embryonal rhabdomyosarcoma. J Med Genet. 1998;35:1036–9.PubMedCentral CrossRef PubMed
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  16.Gripp KW, Scott CI, Nicholson L, Figueroa TE. Second case of bladder carcinoma in a patient with Costello syndrome. Am J Med Genet. 2000;90:256–9.CrossRef PubMed
  17.Kobayashi D, Cook AL, Williams DA. Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy. Cardiol Young. 2010;20:459–61. doi:10.​1017/​S104795111000026​0.​EpubMar22 .CrossRef PubMed
  
• 作者单位：Ewa Blachowska (1)
  Elżbieta Petriczko (1)
  Anita Horodnicka-Józwa (1)
  Agata Skórka (2) (3)
  Magdalena Pelc (2)
  Małgorzata Krajewska-Walasek (2)
  Mieczysław Walczak (1)
  
  1. Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Ulica Unii Lubelskiej 1, 71-252, Szczecin, Poland
  2. Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
  3. Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland
  
• 刊物主题：Pediatrics; Maternal and Child Health;
• 出版者：BioMed Central
• ISSN：1824-7288

文摘

Background Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incidence of congenital heart disease, hypertrophic cardiomyopathy, and increased risk of both benign and malignant tumors. Furthermore, cases of patients with endocrine disorders such as adrenal insufficiency and endogenous growth hormone deficiency have also been documented.