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Manor J, Lalani SR. Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr. 2020;8:574857doi: 10.3389/fped.2020.574857.
Manor, J., & Lalani, S. R. (2020). Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Frontiers in pediatrics, 8574857. https://doi.org/10.3389/fped.2020.574857
Manor, Joshua, and Lalani, Seema R. "Overgrowth Syndromes-Evaluation, Diagnosis, and Management." Frontiers in pediatrics vol. 8 (2020): 574857. doi: https://doi.org/10.3389/fped.2020.574857
Manor J, Lalani SR. Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr. 2020 Oct 30;8:574857. doi: 10.3389/fped.2020.574857. eCollection 2020. PMID: 33194904; PMCID: PMC7661798.
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Front Pediatr. 2020 Oct 30;8:574857. doi: 10.3389/fped.2020.574857. eCollection 2020.

Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

Frontiers in pediatrics

Joshua Manor, Seema R Lalani

Affiliations

  1. Department of Molecular Genetics, Baylor College of Medicine, Houston, TX, United States.

PMID: 33194904 PMCID: PMC7661798 DOI: 10.3389/fped.2020.574857

Abstract

Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of tumor predisposition that necessitate prompt diagnosis and appropriate referral. In this review, we introduce some of the more common overgrowth syndromes, along with their molecular mechanisms, diagnostics, and medical complications for improved recognition and management of patients affected with these disorders.

Copyright © 2020 Manor and Lalani.

Keywords: Beckwith-Wiedemann; PIK3CA; Proteus Syndrome; Pten; Simpson-Golabi-Behmel; Sotos; Weaver; overgrowth

References

  1. Am J Med Genet A. 2017 Mar;173(3):581-584 - PubMed
  2. J Endocrinol. 2011 Nov;211(2):109-21 - PubMed
  3. Hum Mutat. 2018 Sep;39(9):1226-1237 - PubMed
  4. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508 - PubMed
  5. J Child Neurol. 2016 Jun;31(7):887-94 - PubMed
  6. Am J Med Genet. 1998 Oct 2;79(4):274-8 - PubMed
  7. J Assist Reprod Genet. 2018 Oct;35(10):1925-1926 - PubMed
  8. J Neuropsychol. 2019 Jun;13(2):240-252 - PubMed
  9. Genes Dev. 2018 Aug 1;32(15-16):993-995 - PubMed
  10. J Med Genet. 1992 May;29(5):332-7 - PubMed
  11. Nat Rev Urol. 2018 Apr;15(4):222-234 - PubMed
  12. Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947 - PubMed
  13. Horm Res Paediatr. 2011;76(1):1-9 - PubMed
  14. J Assist Reprod Genet. 2018 Jun;35(6):985-992 - PubMed
  15. Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):402-421 - PubMed
  16. Am J Med Genet A. 2017 Feb;173(2):541-545 - PubMed
  17. Clin Genet. 2018 Nov;94(5):461-466 - PubMed
  18. Epigenetics. 2015;10(7):643-9 - PubMed
  19. Am J Med Genet A. 2013 Oct;161A(10):2481-6 - PubMed
  20. Proc Natl Acad Sci U S A. 2001 Jun 5;98(12):6871-6 - PubMed
  21. Eur J Med Genet. 2018 Jan;61(1):11-16 - PubMed
  22. Clin Cancer Res. 2017 Jun 15;23(12):e76-e82 - PubMed
  23. Ann Hum Biol. 2012 Sep;39(5):382-94 - PubMed
  24. J Pediatr Adolesc Gynecol. 2019 Dec;32(6):648-650 - PubMed
  25. Early Hum Dev. 1991 Nov;27(1-2):93-102 - PubMed
  26. Curr Probl Pediatr Adolesc Health Care. 2015 Apr;45(4):97-111 - PubMed
  27. Eur J Hum Genet. 2006 Nov;14(11):1151-7 - PubMed
  28. Clin Genet. 2017 Jan;91(1):14-21 - PubMed
  29. Phlebology. 2017 Jul;32(6):371-383 - PubMed
  30. J Natl Compr Canc Netw. 2017 Jan;15(1):9-20 - PubMed
  31. Eur J Med Genet. 2018 Sep;61(9):499-507 - PubMed
  32. Eur J Med Genet. 2011 May-Jun;54(3):262-71 - PubMed
  33. Oncotarget. 2014 Sep 30;5(18):8014-26 - PubMed
  34. Nat Rev Endocrinol. 2018 Apr;14(4):229-249 - PubMed
  35. Pediatr Nephrol. 2000 Jul;14(7):612-5 - PubMed
  36. Am J Med Genet A. 2018 May;176(5):1212-1215 - PubMed
  37. Clin Genet. 1989 Jan;35(1):20-8 - PubMed
  38. Am J Med Genet A. 2013 Dec;161A(12):2972-80 - PubMed
  39. Pediatr Rev. 2005 Nov;26(11):410-20 - PubMed
  40. Front Pediatr. 2020 Jan 21;7:562 - PubMed
  41. Genet Med. 2019 May;21(5):1189-1198 - PubMed
  42. PLoS One. 2018 Jul 9;13(7):e0200343 - PubMed
  43. Nat Genet. 2008 Nov;40(11):1329-34 - PubMed
  44. Trends Mol Med. 2014 Nov;20(11):614-22 - PubMed
  45. Wellcome Open Res. 2018 Apr 23;3:46 - PubMed
  46. Br J Haematol. 2020 Feb;188(3):367-382 - PubMed
  47. Clin Epigenetics. 2014 Jun 04;6(1):11 - PubMed
  48. Am J Med Genet A. 2018 Dec;176(12):2896-2900 - PubMed
  49. Genet Med. 2015 May;17(5):405-24 - PubMed
  50. Hereditas. 2018 Sep 28;155:32 - PubMed
  51. Epilepsia. 2012 Jun;53(6):e102-5 - PubMed
  52. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7 - PubMed
  53. Neurology. 1999 Oct 12;53(6):1254-9 - PubMed
  54. Am J Dermatopathol. 2010 Dec;32(8):804-8 - PubMed
  55. N Engl J Med. 2011 Aug 18;365(7):611-9 - PubMed
  56. Cell Death Dis. 2018 Jan 19;9(2):45 - PubMed
  57. Pediatr Rev. 1992 Dec;13(12):453-60 - PubMed
  58. Nat Rev Endocrinol. 2019 May;15(5):299-311 - PubMed
  59. Development. 2000 Jul;127(14):3141-59 - PubMed
  60. J Hum Genet. 2016 Sep;61(9):831-4 - PubMed
  61. J Pediatr. 2015 Apr;166(4):1048-54.e1-5 - PubMed
  62. Expert Rev Mol Diagn. 2015;15(8):1023-32 - PubMed
  63. Pediatr Rev. 2011 Mar;32(3):100-7; quiz 108 - PubMed
  64. Hum Mol Genet. 2005 Feb 15;14(4):535-42 - PubMed
  65. Int J Oral Maxillofac Surg. 2012 Mar;41(3):300-8 - PubMed
  66. Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):484-91 - PubMed
  67. An Pediatr (Barc). 2012 Mar;76(3):161.e1-28 - PubMed
  68. JAMA Pediatr. 2017 Sep 1;171(9):855-862 - PubMed
  69. Cold Spring Harb Perspect Biol. 2016 Feb 01;8(2):a019497 - PubMed
  70. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547 - PubMed
  71. Am J Med Genet A. 2017 Jan;173(1):285-288 - PubMed
  72. Eur J Hum Genet. 2018 Apr;26(4):473-474 - PubMed
  73. Eur J Hum Genet. 2017 Sep;25(9):1031-1039 - PubMed
  74. Genet Med. 2005 Oct;7(8):524-33 - PubMed
  75. BMC Genet. 2017 Feb 14;18(1):14 - PubMed
  76. Am J Med Genet A. 2004 Oct 1;130A(2):111-22 - PubMed
  77. J Assist Reprod Genet. 2018 Jun;35(6):943-952 - PubMed
  78. Autism Res. 2013 Feb;6(1):51-6 - PubMed
  79. Front Pediatr. 2017 Nov 07;5:236 - PubMed
  80. Nature. 2018 Jun;558(7711):540-546 - PubMed
  81. Orphanet J Rare Dis. 2014 Sep 20;9:138 - PubMed
  82. Clin Cancer Res. 2017 Jul 1;23(13):e115-e122 - PubMed
  83. Nat Med. 2016 Feb;22(2):128-34 - PubMed
  84. Curr Opin Endocrinol Diabetes Obes. 2011 Feb;18(1):9-13 - PubMed
  85. Am J Med Genet A. 2016 Sep;170(9):2248-60 - PubMed
  86. Am J Med Genet A. 2015 Jan;167A(1):151-5 - PubMed
  87. J Mol Endocrinol. 2014 Aug;53(1):T35-44 - PubMed
  88. Am J Hum Genet. 2005 Aug;77(2):193-204 - PubMed
  89. Am J Med Genet A. 2019 Apr;179(4):588-594 - PubMed
  90. Am J Hum Genet. 2017 May 4;100(5):725-736 - PubMed
  91. Horm Res Paediatr. 2016;86(6):361-397 - PubMed
  92. Int J Mol Sci. 2019 Nov 18;20(22): - PubMed
  93. Eur J Hum Genet. 2010 Jan;18(1):8-14 - PubMed
  94. Genet Med. 2018 Dec;20(12):1564-1574 - PubMed

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