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Short Stature

  • Author: Sunil Sinha, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
 
Updated: Jun 17, 2016
 

Background

Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data.

Short stature, optimally defined relative to the genetic endowment of the individual, is recognized by comparing an individual child’s height with that of a large population of a similar genetic background and, more particularly, using the mid-parental target height (see History). Adult height is largely genetically predetermined; typically, 80% or more of the variation in height can be explained by genetic factors, although environmental factors also play a pivotal role.

Growth failure (GF) is often confused with short stature. By definition, GF is a pathologic state of abnormally low growth rate over time, whereas short stature is often a normal variant. Regardless of the genetic background, short stature may be a sign of a wide variety of pathologic conditions or inherited disorders. Thus, accurate longitudinal growth assessment is a fundamental aspect of health maintenance in children. Reviewing the patient's growth chart is critical to evaluating short stature. Deviation from a prior growth pattern appropriate for the genetic background often heralds new pathology. In addition, analysis of the prior growth pattern helps distinguish normal growth from pathologic variants of short stature.

Compared with a well-nourished, genetically relevant population, short stature is defined as a standing height more than 2 standard deviations (SDs) below the mean (or below the 2.5 percentile) for sex.[1] Skeletal maturation is typically determined by the bone age, which is assessed using anteroposterior radiography of the left hand and wrist. Sex-specific reference data for standing height, head circumference, and weight have been published for most developed countries, most ethnic subpopulations (including Asians and blacks), and the most common genetic disorders (eg, Down syndrome, Ullrich-Turner syndrome, achondroplasia).

The causes of short stature can be divided into 3 broad categories: chronic disease (including undernutrition genetic disorders), familial short stature, and constitutional delay of growth and development. Endocrine diseases are rare causes of short stature (see Frequency). The hallmark of endocrine disease is linear GF that occurs to a greater degree than weight loss. Most short children evaluated by clinicians in developed countries have familial short stature, constitutional growth delay, or both. Short stature and constitutional growth delay are diagnoses of exclusion.

The hallmarks of familial short stature (also referred to as genetic short stature) include bone age appropriate for chronologic age, normal growth velocity, and predicted adult height appropriate to the familial pattern (using the Bayley-Pinneau or Tanner-Goldstein-Whitehouse tables). By contrast, constitutional growth delay is characterized by delayed bone age, normal growth velocity, and predicted adult height appropriate to the familial pattern (see image below).

Comparison of the growth patterns between idiopath Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.

Patients with constitutional growth delay typically have a first-degree or second-degree relative with constitutional growth delay (eg, menarche reached when older than 15 y, adult height attained in male relatives when older than 18 y).

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Pathophysiology

Short stature may be normal. Obtaining the family history of growth patterns and direct measurement of the parents is crucial to determine the genetic potential for growth in the child.

Short stature can also be the sign of a wide variety of pathologic conditions or inherited disorders when it results from GF or premature closure of the epiphysial growth plates. Therefore, pathophysiology depends on the underlying cause. For detailed discussions of the disorders included in the differential diagnoses of short stature, see Differentials.

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Epidemiology

Frequency

United States

By definition, 2.5% of the population is short. However, the number of children with poor linear growth is higher given the frequency of chronic diseases of childhood. The Utah Growth Study is the largest population-based survey of growth in children published to date.[2] These investigators assessed height and growth velocity in nearly 115,000 American children. Among the 555 children with short stature (defined as height below the third percentile) and poor growth rate (defined as growth velocity < 5 cm annually), only 5% had an endocrine disorder. In addition, 48% of the children with growth hormone deficiency (GHD) or Turner syndrome (TS) in this large cohort had been undiagnosed or untreated.

Parents often suspect an endocrine disorder (eg, GHD) as the major cause of short stature in their child. In fact, the Utah Growth Study confirms that most (95%) children with poor growth (velocity < 5 cm/y) do not have an endocrine disorder.

International

Unfortunately, malnutrition remains the most common cause of GF worldwide. Supporting lay and professional efforts to reverse this preventable cause of short stature in besieged communities must be a high priority of all governments and health care professionals.

Race

Normal variations in stature are often related to ethnic background. For example, tall for a Cambodian individual may be short for a Norwegian individual. However, the major causes of short stature (ie, malnutrition, recurrent illness, parasites) are not race specific.

Sex

Boys who are short are more likely to come to medical attention than girls who are short. Notwithstanding the legitimate debate regarding this ascertainment bias, boys do appear more likely to have idiopathic GHD or constitutional delay of growth and development. Ullrich-Turner syndrome (ie, TS) affects only females. The evaluation of a short female, or a female with primary amenorrhea, mandates a karyotype to exclude this disorder.

Age

Individuals of any age can be affected.

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Prognosis

Individuals with normal variant short stature have an excellent prognosis.

Treatment of patients with classic growth hormone deficiency (GHD) with rhGH can be expected to yield a height consistent with genetic potential, provided that therapy is initiated at least 5 years prior to the onset of puberty. Whether cotreatment with rhGH and a gonadotropin-releasing hormone analog (eg, leuprolide) to inhibit puberty results in greater adult height in patients with classic GHD remains controversial.

Treatment of hypothyroidism at least 5 years before the onset of puberty is essential to attain a height consistent with the genetic potential.

Any chronic illness can reduce the adult height achieved if treatment of the condition is initiated late.

A Japanese study, by Shimizu et al, indicated that short stature in middle-aged men places them at an inflammatory disadvantage.  The study, which involved 3016 men aged 30-59 years, found height to be inversely proportional to white blood cell count, particularly in men with a body mass index of 23 kg/m2 or above.[3]

A study by Quitmann et al indicated that children and adolescents with current short stature are more likely to have internalizing problems and a lower self- and parent-reported health-related quality of life than do those who have previously been diagnosed with short stature but who have reached a height greater than -2SDs by the time of evaluation.[4]

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Patient Education

Superb resources prepared by health care professionals for lay audiences include the following:

In addition, the following are examples of informative Web sites for specific diseases that bring parents and researchers together in the ongoing effort to improve care:

For patient education resources, see the Growth Hormone Deficiency Center, as well as Short Stature in ChildrenGrowth Hormone DeficiencyGrowth Failure in ChildrenUnderstanding Growth Hormone Deficiency Medications, and Growth Hormone Deficiency FAQs.

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Contributor Information and Disclosures
Author

Sunil Sinha, MD Assistant Professor, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Sunil Sinha, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lynne Lipton Levitsky, MD Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor of Pediatrics, Harvard Medical School

Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Received grant/research funds from Eli Lilly for pi; Received grant/research funds from NovoNordisk for pi; Received consulting fee from NovoNordisk for consulting; Partner received consulting fee from Onyx Heart Valve for consulting.

Chief Editor

Stephen Kemp, MD, PhD Former Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Angelo P Giardino, MD, MPH, PhD Professor and Section Head, Academic General Pediatrics, Baylor College of Medicine; Senior Vice President and Chief Quality Officer, Texas Children’s Hospital

Angelo P Giardino, MD, MPH, PhD is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American Professional Society on the Abuse of Children, Harris County Medical Society, International Society for the Prevention of Child Abuse and Neglect, Ray E Helfer Society

Disclosure: Received grant/research funds from Health Resources and Services Administration (HRSA) Integrated Community Systems for CSHCN Grant for other; Received advisory board from Baxter Healthcare Corporation for board membership.

Acknowledgements

Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

References
  1. [Guideline] Cohen P, Rogol AD, Deal CL, et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab. 2008 Nov. 93(11):4210-7. [Medline].

  2. Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M. Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. J Pediatr. 1994 Jul. 125(1):29-35. [Medline].

  3. Shimizu Y, Yoshimine H, Nagayoshi M, et al. Short stature is an inflammatory disadvantage among middle-aged Japanese men. Environ Health Prev Med. 2016 May 10. [Medline].

  4. Quitmann JH, Bullinger M, Sommer R, Rohenkohl AC, Bernardino Da Silva NM. Associations between Psychological Problems and Quality of Life in Pediatric Short Stature from Patients' and Parents' Perspectives. PLoS One. 2016. 11 (4):e0153953. [Medline]. [Full Text].

  5. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic Evaluation of Short Stature. J Clin Endocrinol Metab. 2014 Jun 10. jc20141506. [Medline].

  6. Albertsson-Wikland K, Aronson AS, Gustafsson J, et al. Dose-dependent effect of growth hormone on final height in children with short stature without growth hormone deficiency. J Clin Endocrinol Metab. 2008 Nov. 93(11):4342-50. [Medline].

  7. Collett-Solberg PF, Misra M,. The role of recombinant human insulin-like growth factor-I in treating children with short stature. J Clin Endocrinol Metab. 2008 Jan. 93(1):10-8. [Medline].

  8. Cohen P, Germak J, Rogol AD, et al. Variable Degree of Growth Hormone (GH) and Insulin-Like Growth Factor (IGF) Sensitivity in Children with Idiopathic Short Stature Compared with GH-Deficient Patients: Evidence from an IGF-Based Dosing Study of Short Children. J Clin Endocrinol Metab. 2010 Mar 5. [Medline].

  9. Carel JC, Ecosse E, Landier F, Meguellati-Hakkas D, Kaguelidou F, Rey G, et al. Long-term mortality after recombinant growth hormonetreatment for isolated childhood short stature: report of the French SAGhE Study. Program of the 93rd Annual Meeting of The. 2011. Abstract LB-5.

  10. Sävendahl L, Maes M, Albertsson-Wikland K, Borgström B, Carel JC, Henrard S, et al. Long-term mortality and causes of death in isolated GHD, ISS, and SGA patients treated with recombinant growth hormone during childhood in Belgium, The Netherlands, and Sweden: preliminary report of 3 countries participating in the EU SAGhE study. J Clin Endocrinol Metab. Feb 2012. 97(2):E213-7. [Medline].

  11. US Food and Drug Administration. Recombinant Human Growth Hormone (somatropin): Ongoing Safety Review - Possible Increased Risk of Death. Available at http://www.fda.gov/Safety/MedWatch/SafetyInformation/SafetyAlertsforHumanMedicalProducts/ucm237969.htm?utm_campaign=Google2&utm_source=fdaSearch&utm_medium=website&utm_term=growth hormone&utm_content=4. Accessed: June 2012.

  12. Hagman A, Wennerholm UB, Kallen K, et al. Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics. Hum Reprod. 2010 Apr 10. [Medline].

  13. Attie KM, Julius JR, Stoppani C, Rundle AC. National Cooperative Growth Study substudy VI: the clinical utility of growth-hormone-binding protein, insulin-like growth factor I, and insulin-like growth factor-binding protein 3 measurements. J Pediatr. 1997 Jul. 131(1 Pt 2):S56-60. [Medline].

  14. Badaru A, Wilson DM. Alternatives to growth hormone stimulation testing in children. Trends Endocrinol Metab. 2004 Aug. 15(6):252-8. [Medline].

  15. Bayley N, Pinneau SR. Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards. J Pediatr. 1952 Apr. 40(4):423-41. [Medline].

  16. Belin V, Cusin V, Viot G, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet. 1998 May. 19(1):67-9. [Medline].

  17. Boguszewski CL, Carlsson B, Carlsson LM. Mechanisms of growth failure in non-growth-hormone deficient children of short stature. Horm Res. 1997. 48 Suppl 4:19-22. [Medline].

  18. Cohen P, Bright GM, Rogol AD, et al. Effects of dose and gender on the growth and growth factor response to GH in GH-deficient children: implications for efficacy and safety. J Clin Endocrinol Metab. 2002 Jan. 87(1):90-8. [Medline]. [Full Text].

  19. de Mel T, Warnasooriya N, Fonseka C. Growth hormone deficiency in Sri Lanka: a preliminary study. Ceylon Med J. 1991 Sep. 36(3):95-7. [Medline].

  20. Elsas LJ, Endo F, Strumlauf E, Elders J, Priest JH. Leprechaunism: an inherited defect in a high-affinity insulin receptor. Am J Hum Genet. 1985 Jan. 37(1):73-88. [Medline].

  21. Ferry RJ Jr, Cohen P. The insulin-like growth factor axis in pediatrics. Clin Pediatr Endocrinol. 1999. 8(1):1-10.

  22. Gandrud LM, Wilson DM. Is growth hormone stimulation testing in children still appropriate?. Growth Horm IGF Res. 2004 Jun. 14(3):185-94. [Medline].

  23. Gatta V, Antonucci I, Morizio E, et al. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. J Hum Genet. 2007. 52(1):21-7. [Medline].

  24. GH Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. J Clin Endocrinol Metab. 2000 Nov. 85(11):3990-3. [Medline]. [Full Text].

  25. Guyda HJ. Four decades of growth hormone therapy for short children: what have we achieved?. J Clin Endocrinol Metab. 1999 Dec. 84(12):4307-16. [Medline]. [Full Text].

  26. Guyda HJ. Growth hormone testing and the short child. Pediatr Res. 2000 Nov. 48(5):579-80. [Medline].

  27. Hardin DS, Woo J, Butsch R, Huett B. Current prescribing practices and opinions about growth hormone therapy: results of a nationwide survey of paediatric endocrinologists. Clin Endocrinol (Oxf). 2007 Jan. 66(1):85-94. [Medline].

  28. Harris NS, Crawford PB, Yangzom Y, et al. Nutritional and health status of Tibetan children living at high altitudes. N Engl J Med. 2001 Feb 1. 344(5):341-7. [Medline]. [Full Text].

  29. Horton WA, Hall JG, Scott CI, Pyeritz RE, Rimoin DL. Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child. 1982 Apr. 136(4):316-9. [Medline].

  30. Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. Standard growth curves for achondroplasia. J Pediatr. 1978 Sep. 93(3):435-8. [Medline].

  31. Hunter AG, Hecht JT, Scott CI Jr. Standard weight for height curves in achondroplasia. Am J Med Genet. 1996 Mar 29. 62(3):255-61. [Medline].

  32. Lee MM. Clinical practice. Idiopathic short stature. N Engl J Med. 2006 Jun 15. 354(24):2576-82. [Medline].

  33. Li H, Leung SS, Lam PK, et al. Height and weight percentile curves of Beijing children and adolescents 0-18 years, 1995. Ann Hum Biol. 1999 Sep-Oct. 26(5):457-71. [Medline].

  34. Lyon AJ, Preece MA, Grant DB. Growth curve for girls with Turner syndrome. Arch Dis Child. 1985 Oct. 60(10):932-5. [Medline].

  35. March of Dimes. Fact sheets for achondroplasia. Available at: http://www.modimes.org. [Full Text].

  36. National Institute of Diabetes & Digestive Kidney Diseases. Fact sheets for patients on growth failure in chronic renal insufficiency. Available at: http://www.niddk.nih.gov. [Full Text].

  37. Palka G, Stuppia L, Guanciali Franchi P, et al. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. Clin Genet. 2000 Jun. 57(6):449-53. [Medline].

  38. Palmer CG, Cronk C, Pueschel SM, et al. Head circumference of children with Down syndrome (0-36 months). Am J Med Genet. 1992 Jan 1. 42(1):61-7. [Medline].

  39. Parkin JM. Incidence of growth hormone deficiency. Arch Dis Child. 1974 Nov. 49(11):904-5. [Medline].

  40. Parks JS, Brown MR, Hurley DL, Phelps CJ, Wajnrajch MP. Heritable disorders of pituitary development. J Clin Endocrinol Metab. 1999 Dec. 84(12):4362-70. [Medline]. [Full Text].

  41. Prader A, Largo RH, Molinari L, Issler C. Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl. 1989 Jun. 52:1-125. [Medline].

  42. Quigley CA, Gill AM, Crowe BJ, et al. Safety of growth hormone treatment in pediatric patients with idiopathic short stature. J Clin Endocrinol Metab. 2005 Sep. 90(9):5188-96. [Medline].

  43. Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997 May. 16(1):54-63. [Medline].

  44. Roche AF, Wainer H, Thissen D. The RWT method for the prediction of adult stature. Pediatrics. 1975 Dec. 56(6):1027-33. [Medline].

  45. Rosenbloom AL, Almonte AS, Brown MR, et al. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. J Clin Endocrinol Metab. 1999 Jan. 84(1):50-7. [Medline]. [Full Text].

  46. Rosenfeld RG. Transition from pediatric to adult care for growth hormone deficiency. J Pediatr Endocrinol Metab. 2003 May. 16 Suppl 3:645-9. [Medline].

  47. Saenger P. Partial growth hormone insensitivity--idiopathic short stature is not always idiopathic. Acta Paediatr Suppl. 1999 Feb. 88(428):194-8. [Medline].

  48. Satin-Smith MS, Katz LL, Thornton P, Gruccio D, Moshang T Jr. Arm span as measurement of response to growth hormone (GH) treatment in a group of children with meningomyelocele and GH deficiency. J Clin Endocrinol Metab. 1996 Apr. 81(4):1654-6. [Medline].

  49. Savendahl L, Davenport ML. Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J Pediatr. 2000 Oct. 137(4):455-9. [Medline].

  50. Shanske AL, Puri M, Marshall B, Saenger P. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. Horm Res. 2007. 67(2):61-6. [Medline].

  51. Shears DJ, Vassal HJ, Goodman FR, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet. 1998 May. 19(1):70-3. [Medline].

  52. Tanner JM, Goldstein H, Whitehouse RH. Standards for children's height at ages 2-9 years allowing for heights of parents. Arch Dis Child. 1970 Dec. 45(244):755-62. [Medline].

  53. Toledo C, Alembik Y, Aguirre Jaime A, Stoll C. Growth curves of children with Down syndrome. Ann Genet. 1999. 42(2):81-90. [Medline].

  54. Turner's Syndrome Society. Ulrich-Turner syndrome. Available at: http://www.turner-syndrome-us.org/. [Full Text].

  55. Weinzimer SA, Homan SA, Ferry RJ, Moshang T. Serum IGF-I and IGFBP-3 concentrations do not accurately predict growth hormone deficiency in children with brain tumours. Clin Endocrinol (Oxf). 1999 Sep. 51(3):339-45. [Medline].

  56. Westphal O, Lindberg A. Final height in Swedish children with idiopathic growth hormone deficiency enrolled in KIGS treated optimally with growth hormone. Acta Paediatr. 2008 Dec. 97(12):1698-706. [Medline].

  57. Wilson DM, Frane J. A brief review of the use and utility of growth hormone stimulation testing in the NCGS: do we need to do provocative GH testing?. Growth Horm IGF Res. 2005 Jul. 15 Suppl A:S21-5. [Medline].

  58. [Guideline] Wilson TA, Rose SR, Cohen P, Rogol AD, Backeljauw P, Brown R. Update of guidelines for the use of growth hormone in children: the Lawson Wilkins Pediatric Endocrinology Society Drug and Therapeutics Committee. J Pediatr. 2003 Oct. 143(4):415-21. [Medline].

  59. Sandberg DE, Gardner M. Short Stature: Is It a Psychosocial Problem and Does Changing Height Matter?. Pediatr Clin North Am. 2015 Aug. 62 (4):963-82. [Medline].

  60. Zayed S, Madlon-Kay DJ. Growth Hormone for Treatment of Idiopathic Short Stature in Children. Am Fam Physician. 2015 Jul 1. 92 (1):64. [Medline].

  61. Wit JM, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab. 2015 Jun. 29 (3):353-66. [Medline].

 
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Proper use of a wall-mounted stadiometer.
Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.
Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent boy (right).
Growth chart for Turner syndrome. Note that the upper limit overlaps the range for girls of normal height.
A single, central, maxillary incisor reflects a defect in midline facial development.
 
 
 
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