Short stature resident survival guide

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eman Alademi, M.D.[2]

Overview

Short stature is caused by multiple causes such as Systemic disorders with secondary effects on growth and pathologic short stature whish is Endocrine, Genetic, and Skeletal dysplasias/growth plate abnormalities. The incidence of short stature is in the late preterm group was 2.9% which was significantly higher than that in the term group (1.4%). The main symptom of short stature in children is very short compared to other children of the same age and sex so usually the children with short stature grow slowly, get their adult teeth later than normal and have normal proportions (their arms and legs match their height).To diagnose short stature we have to do the clinic evaluation to know if its identified as a short stature with dismorphic features or no as well as if the body disproportion or skeletal deformities. Then we can treat the short stature case by the cause of it individually.

Causes

Common Causes

Idiopathic[1]

Systemic disorders with secondary effects on growth[2][3][4]:

  • Undernutrition [5]


pathologic short stature[28][29][30][31][32][33][34][35]

Endocrine causes[36] of growth failure

Genetic diseases with primary effects on growth[44][45]

Skeletal dysplasias/growth plate abnormalities[73][74][75][76][77][78]





Diagnosis

Measure your child's height and weight and plot it on growth charts[79], Take x-rays of the bones of your child's hand to measure the bone age, To find out what is causing your child's short stature, doctors may do:,CT scan or MRI of the head,Blood tests.

Doctors do CT or MRI of the head to look for tumors or other problems with the gland that makes growth hormone (the pituitary gland).


Shown below is an algorithm summarizing the diagnosis of according the the Netherlands, guidelines.for referral are based on screening parameters of height SDS, height SDS relative to target height SDS, and height SDS deflection[80][81][82][83][84][85]

Diagnosis and Referral for Non-GH Deficiency Disorders[86]

1.Turner syndrome[87][88][89][90]

2.short-stature homeobox (SHOX) gene insufficiency[91]

3. Noonan syndrome[92]

4.Skeletal disproportions[93]

Gaps in the Diagnosis of Short Stature Due to GH Deficiency: depend on clinical and phenotype assessments with growth monitoring and laboratory evaluations

1. tumors and identify ectopic and hypoplastic pituitary glands[94][95]

2.hypothyroidism and chronic systemic diseases[96][97][98]


 
 
 
Diagnosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Treatment

Shown below is an algorithm summarizing the treatment of [[disease name]] according the the [...] guidelines.[99]



1.Normal variants of growth[edit | edit source]

Familial short stature=None needed. Reassurance; monitor growth

Constitutional delay of growth and puberty=None needed. Reassurance; monitor growth; +/– treatment with sex steroids during puberty.

SGA infant, with catch-up growth=Monitor growth to distinguish from the 10% of SGA infants who do not have catch-up growth.

2.Pathologic causes of growth failure[edit | edit source]

Systemic disorders or processes with secondary effects on growth=

Undernutrition=Reverse nutritional deficit.

Glucocorticoid therapy=Minimize glucocorticoid dose or give on alternate days if feasible; consider alternate drugs.

GI disease (especially Crohn disease and celiac disease)=Diagnose and treat underlying disease, improve nutrition, avoid glucocorticoids.

Rheumatologic disease (especially systemic onset juvenile idiopathic arthritis)=Diagnose and treat underlying disease, improve nutrition, avoid glucocorticoids

Renal disease (CKD, renal tubular acidosis)=Diagnose and treat underlying disease, maximize nutrition; GH if needed.

Cancer=Ensure adequate nutrition; treat any secondary pituitary hormone deficiencies (eg, GH deficiency)

Pulmonary disease (eg, cystic fibrosis, immune deficiencies with recurrent pulmonary infections, or severe asthma)=Diagnose and treat underlying disease, ensure adequate nutrition, avoid glucocorticoids

Immunologic disease=Diagnose and treat underlying disease

Endocrine causes of growth failure

Hypothyroidism=Thyroid hormone replacement

Cushing syndrome=Diagnose and treat underlying disease

GH deficiency=rGH

Precocious puberty=Treatment depends on type of precocious puberty

Genetic diseases with primary effects on growth

Turner syndrome=Estrogen, GH

SHOX mutations=Consider GH.

Noonan syndrome=Consider GH.

Silver-Russell syndrome=Consider GH

Skeletal dysplasias

Achondroplasia=Management of complications, which may include craniocervical junction compression, sleep apnea, spinal stenosis.

Hypochondroplasia=Surveillance for spinal stenosis, with surgery as needed.

Spondyloepiphyseal dysplasia=Surveillance for spinal disorders and osteoarthritis, with surgery as needed

Osteogenesis imperfecta=Bisphosphonates, fracture management

 
 
 
 
 
 
 
Treatment
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Do's

  • Management decisions often evolve from primary care physicians’ threshold for specialist consultation to rule out pathologic causes of shortness, pediatric endocrinologists’ perspective about use of growth-promoting medications, insurance,13–16 and parents concerned that their child is “noticeably shorter than the other kids” or “teased because of his/her size.”[100][101][102][103]
  • Discouraging the reliance on tests that provoke GH secretions as the only criterion for diagnosing GHD[104]

Don'ts

  • The content in this section is in bullet points.

References

  1. ↑ Allen DB (2006). "Growth hormone therapy for short stature: is the benefit worth the burden?". Pediatrics. 118 (1): 343–8. doi:10.1542/peds.2006-0329. PMID 16818584 PMID 16818584 Check |pmid= value (help).
  2. ↑ Biederman J, Spencer TJ, Monuteaux MC, Faraone SV (2010). "A naturalistic 10-year prospective study of height and weight in children with attention-deficit hyperactivity disorder grown up: sex and treatment effects". J Pediatr. 157 (4): 635–40, 640.e1. doi:10.1016/j.jpeds.2010.04.025. PMC 2943875. PMID 20605163.
  3. ↑ Swanson JM, Elliott GR, Greenhill LL, Wigal T, Arnold LE, Vitiello B; et al. (2007). "Effects of stimulant medication on growth rates across 3 years in the MTA follow-up". J Am Acad Child Adolesc Psychiatry. 46 (8): 1015–1027. doi:10.1097/chi.0b013e3180686d7e. PMID 17667480.
  4. ↑ Faraone SV, Biederman J, Morley CP, Spencer TJ (2008). "Effect of stimulants on height and weight: a review of the literature". J Am Acad Child Adolesc Psychiatry. 47 (9): 994–1009. doi:10.1097/CHI.ObO13e31817eOea7. PMID 18580502.
  5. ↑ Lifshitz F, Moses N (1988). "Nutritional dwarfing: growth, dieting, and fear of obesity". J Am Coll Nutr. 7 (5): 367–76. doi:10.1080/07315724.1988.10720254. PMID 3053861.
  6. ↑ Lai HC, FitzSimmons SC, Allen DB, Kosorok MR, Rosenstein BJ, Campbell PW; et al. (2000). "Risk of persistent growth impairment after alternate-day prednisone treatment in children with cystic fibrosis". N Engl J Med. 342 (12): 851–9. doi:10.1056/NEJM200003233421204. PMID 10727589.
  7. ↑ Doull IJ, Freezer NJ, Holgate ST (1995). "Growth of prepubertal children with mild asthma treated with inhaled beclomethasone dipropionate". Am J Respir Crit Care Med. 151 (6): 1715–9. doi:10.1164/ajrccm.151.6.7767512. PMID 7767512.
  8. ↑ Wolthers OD, Pedersen S (1991). "Growth of asthmatic children during treatment with budesonide: a double blind trial". BMJ. 303 (6795): 163–5. doi:10.1136/bmj.303.6795.163. PMC 1670402. PMID 1878641.
  9. ↑ Punthakee Z, Legault L, Polychronakos C (2003). "Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency". J Pediatr. 143 (3): 402–5. doi:10.1067/S0022-3476(03)00294-4. PMID 14517528.
  10. ↑ Allen DB, Julius JR, Breen TJ, Attie KM (1998). "Treatment of glucocorticoid-induced growth suppression with growth hormone. National Cooperative Growth Study". J Clin Endocrinol Metab. 83 (8): 2824–9. doi:10.1210/jcem.83.8.5036. PMID 9709954.
  11. ↑ Allen DB (1996). "Growth suppression by glucocorticoid therapy". Endocrinol Metab Clin North Am. 25 (3): 699–717. doi:10.1016/s0889-8529(05)70348-0. PMID 8879994.
  12. ↑ Hernández M, Argente J, Navarro A, Caballo N, Barrios V, Hervás F; et al. (1992). "Growth in malnutrition related to gastrointestinal diseases: coeliac disease". Horm Res. 38 Suppl 1: 79–84. doi:10.1159/000182576. PMID 1284243.
  13. ↑ Vasseur F, Gower-Rousseau C, Vernier-Massouille G, Dupas JL, Merle V, Merlin B; et al. (2010). "Nutritional status and growth in pediatric Crohn's disease: a population-based study". Am J Gastroenterol. 105 (8): 1893–900. doi:10.1038/ajg.2010.20. PMID 20145606.
  14. ↑ Sawczenko A, Sandhu BK (2003). "Presenting features of inflammatory bowel disease in Great Britain and Ireland". Arch Dis Child. 88 (11): 995–1000. doi:10.1136/adc.88.11.995. PMC 1719349. PMID 14612366.
  15. ↑ Sanderson IR (2014). "Growth problems in children with IBD". Nat Rev Gastroenterol Hepatol. 11 (10): 601–10. doi:10.1038/nrgastro.2014.102. PMID 24957008.
  16. ↑ Bechtold S, Roth J (2009). "Natural history of growth and body composition in juvenile idiopathic arthritis". Horm Res. 72 Suppl 1: 13–9. doi:10.1159/000229758. PMID 19940490.
  17. ↑ Polito C, Strano CG, Olivieri AN, Alessio M, Iammarrone CS, Todisco N; et al. (1997). "Growth retardation in non-steroid treated juvenile rheumatoid arthritis". Scand J Rheumatol. 26 (2): 99–103. doi:10.3109/03009749709115826. PMID 9137323.
  18. ↑ de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M (2018). "Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies". Horm Res Paediatr. 90 (5): 337–343. doi:10.1159/000489778. PMID 29940586.
  19. ↑ McSherry E, Morris RC (1978). "Attainment and maintenance of normal stature with alkali therapy in infants and children with classic renal tubular acidosis". J Clin Invest. 61 (2): 509–27. doi:10.1172/JCI108962. PMC 372562. PMID 621287.
  20. ↑ Nandagopal R, Laverdière C, Mulrooney D, Hudson MM, Meacham L (2008). "Endocrine late effects of childhood cancer therapy: a report from the Children's Oncology Group". Horm Res. 69 (2): 65–74. doi:10.1159/000111809. PMID 18059086.
  21. ↑ Clayton PE, Shalet SM, Morris-Jones PH, Price DA (1988). "Growth in children treated for acute lymphoblastic leukaemia". Lancet. 1 (8583): 460–2. doi:10.1016/s0140-6736(88)91246-9. PMID 2893877.
  22. ↑ Karlberg J, Kjellmer I, Kristiansson B (1991). "Linear growth in children with cystic fibrosis. I. Birth to 8 years of age". Acta Paediatr Scand. 80 (5): 508–14. doi:10.1111/j.1651-2227.1991.tb11894.x. PMID 1872173.
  23. ↑ Thommessen M, Heiberg A, Kase BF (1992). "Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome". Eur J Clin Nutr. 46 (7): 457–64. PMID 1623850.
  24. ↑ McKinney RE, Robertson JW (1993). "Effect of human immunodeficiency virus infection on the growth of young children. Duke Pediatric AIDS Clinical Trials Unit". J Pediatr. 123 (4): 579–82. doi:10.1016/s0022-3476(05)80955-2. PMID 8410511.
  25. ↑ Bonfig W, Kapellen T, Dost A, Fritsch M, Rohrer T, Wolf J; et al. (2012). "Growth in children and adolescents with type 1 diabetes". J Pediatr. 160 (6): 900–3.e2. doi:10.1016/j.jpeds.2011.12.007. PMID 22244464.
  26. ↑ Mauras N, Merimee T, Rogol AD (1991). "Function of the growth hormone-insulin-like growth factor I axis in the profoundly growth-retarded diabetic child: evidence for defective target organ responsiveness in the Mauriac syndrome". Metabolism. 40 (10): 1106–11. doi:10.1016/0026-0495(91)90138-m. PMID 1719338.
  27. ↑ Clarke WL, Vance ML, Rogol AD (1993). "Growth and the child with diabetes mellitus". Diabetes Care. 16 Suppl 3: 101–6. doi:10.2337/diacare.16.3.101. PMID 8299467.
  28. ↑ Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC; et al. (2019). "Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature". J Clin Endocrinol Metab. 104 (6): 2023–2030. doi:10.1210/jc.2018-01971. PMID 30602027.
  29. ↑ Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S; et al. (2014). "Defining the role of common variation in the genomic and biological architecture of adult human height". Nat Genet. 46 (11): 1173–86. doi:10.1038/ng.3097. PMC 4250049. PMID 25282103.
  30. ↑ Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A; et al. (2018). "Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature". Genet Med. 20 (6): 630–638. doi:10.1038/gim.2017.159. PMC 5993671. PMID 29758562.
  31. ↑ Ouni M, Castell AL, Rothenbuhler A, Linglart A, Bougnères P (2016). "Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature". Clin Endocrinol (Oxf). 84 (2): 216–221. doi:10.1111/cen.12867. PMID 26218795.
  32. ↑ Cuttler L, Marinova D, Mercer MB, Connors A, Meehan R, Silvers JB (2009). "Patient, physician, and consumer drivers: referrals for short stature and access to specialty drugs". Med Care. 47 (8): 858–65. doi:10.1097/MLR.0b013e31819e1f04. PMID 19543124.
  33. ↑ Cohen P, Rogol AD, Deal CL, Saenger P, Reiter EO, Ross JL; et al. (2008). "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. 93 (11): 4210–7. doi:10.1210/jc.2008-0509. PMID 18782877.
  34. ↑ Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P (2008). "Idiopathic short stature: definition, epidemiology, and diagnostic evaluation". Growth Horm IGF Res. 18 (2): 89–110. doi:10.1016/j.ghir.2007.11.004. PMID 18182313.
  35. ↑ Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P (2008). "Idiopathic short stature: definition, epidemiology, and diagnostic evaluation". Growth Horm IGF Res. 18 (2): 89–110. doi:10.1016/j.ghir.2007.11.004. PMID 18182313.
  36. ↑ Rosenfeld RG, Albertsson-Wikland K, Cassorla F, Frasier SD, Hasegawa Y, Hintz RL; et al. (1995). "Diagnostic controversy: the diagnosis of childhood growth hormone deficiency revisited". J Clin Endocrinol Metab. 80 (5): 1532–40. doi:10.1210/jcem.80.5.7538145. PMID 7538145.
  37. ↑ Magiakou MA, Mastorakos G, Oldfield EH, Gomez MT, Doppman JL, Cutler GB; et al. (1994). "Cushing's syndrome in children and adolescents. Presentation, diagnosis, and therapy". N Engl J Med. 331 (10): 629–36. doi:10.1056/NEJM199409083311002. PMID 8052272.
  38. ↑ Kanter AS, Diallo AO, Jane JA, Sheehan JP, Asthagiri AR, Oskouian RJ; et al. (2005). "Single-center experience with pediatric Cushing's disease". J Neurosurg. 103 (5 Suppl): 413–20. doi:10.3171/ped.2005.103.5.0413. PMID 16302612.
  39. ↑ Joshi SM, Hewitt RJ, Storr HL, Rezajooi K, Ellamushi H, Grossman AB; et al. (2005). "Cushing's disease in children and adolescents: 20 years of experience in a single neurosurgical center". Neurosurgery. 57 (2): 281–5, discussion 281-5. doi:10.1227/01.neu.0000166580.94215.53. PMID 16094156.
  40. ↑ Rogol AD (2001). "Early menarche and adult height: reprise of the hare and the tortoise?". J Pediatr. 138 (5): 617–8. doi:10.1067/mpd.2001.114697. PMID 11343032 PMID 11343032 Check |pmid= value (help).
  41. ↑ Biro FM, McMahon RP, Striegel-Moore R, Crawford PB, Obarzanek E, Morrison JA; et al. (2001). "Impact of timing of pubertal maturation on growth in black and white female adolescents: The National Heart, Lung, and Blood Institute Growth and Health Study". J Pediatr. 138 (5): 636–43. doi:10.1067/mpd.2001.114476. PMID 11343036.
  42. ↑ Herman-Giddens ME, Slora EJ, Wasserman RC, Bourdony CJ, Bhapkar MV, Koch GG; et al. (1997). "Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network". Pediatrics. 99 (4): 505–12. doi:10.1542/peds.99.4.505. PMID 9093289.
  43. ↑ Rosenfeld RG, Albertsson-Wikland K, Cassorla F, Frasier SD, Hasegawa Y, Hintz RL; et al. (1995). "Diagnostic controversy: the diagnosis of childhood growth hormone deficiency revisited". J Clin Endocrinol Metab. 80 (5): 1532–40. doi:10.1210/jcem.80.5.7538145. PMID 7538145.
  44. ↑ Sheiner E, Levy A, Katz M, Mazor M (2005). "Short stature--an independent risk factor for Cesarean delivery". Eur J Obstet Gynecol Reprod Biol. 120 (2): 175–8. doi:10.1016/j.ejogrb.2004.09.013. PMID 15925047 PMID: 15925047 Check |pmid= value (help).
  45. ↑ Kaplan SL, Grumbach MM (1990). "Clinical review 14: Pathophysiology and treatment of sexual precocity". J Clin Endocrinol Metab. 71 (4): 785–9. doi:10.1210/jcem-71-4-785. PMID 2205623.
  46. ↑ Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL; et al. (2007). "Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial". J Clin Endocrinol Metab. 92 (1): 219–28. doi:10.1210/jc.2006-1409. PMID 17047016.
  47. ↑ Binder G, Schwarze CP, Ranke MB (2000). "Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone". J Clin Endocrinol Metab. 85 (1): 245–9. doi:10.1210/jcem.85.1.6375. PMID 10634394.
  48. ↑ Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M; et al. (2003). "Familial growth and skeletal features associated with SHOX haploinsufficiency". J Pediatr Endocrinol Metab. 16 (7): 987–96. doi:10.1515/jpem.2003.16.7.987. PMID 14513875.
  49. ↑ Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA; et al. (2003). "Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency". J Pediatr Endocrinol Metab. 16 (7): 997–1004. doi:10.1515/jpem.2003.16.7.997. PMID 14513876.
  50. ↑ Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W (1997). "PHOG, a candidate gene for involvement in the short stature of Turner syndrome". Hum Mol Genet. 6 (8): 1341–7. doi:10.1093/hmg/6.8.1341. PMID 9259282.
  51. ↑ Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A; et al. (1999). "SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome". Acta Paediatr Suppl. 88 (433): 55–9. doi:10.1111/j.1651-2227.1999.tb14404.x. PMID 10626546.
  52. ↑ Franklin SL, Geffner ME (2009). "Growth hormone: the expansion of available products and indications". Endocrinol Metab Clin North Am. 38 (3): 587–611. doi:10.1016/j.ecl.2009.06.006. PMID 19717006.
  53. ↑ Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW; et al. (2004). "SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity". J Clin Endocrinol Metab. 89 (9): 4403–8. doi:10.1210/jc.2004-0591. PMID 15356038.
  54. ↑ Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA; et al. (2007). "Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency". J Med Genet. 44 (5): 306–13. doi:10.1136/jmg.2006.046581. PMC 2597980. PMID 17182655.
  55. ↑ Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY; et al. (1993). "Prader-Willi syndrome: consensus diagnostic criteria". Pediatrics. 91 (2): 398–402. PMC 6714046 Check |pmc= value (help). PMID 8424017.
  56. ↑ Cassidy SB (1987). "Prader-Willi syndrome. Characteristics, management, and etiology". Ala J Med Sci. 24 (2): 169–75. PMID 3578708.
  57. ↑ Butler MG, Kaler SG, Yu PL, Meaney FJ (1982). "Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome". Clin Genet. 22 (6): 315–20. doi:10.1111/j.1399-0004.1982.tb01846.x. PMC 6218245. PMID 7160103.
  58. ↑ Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB; et al. (1999). "Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints". Am J Hum Genet. 65 (2): 370–86. doi:10.1086/302510. PMC 1377936. PMID 10417280.
  59. ↑ Hamilton CR, Scully RE, Kliman B (1972). "Hypogonadotropinism in Prader-Willi syndrome. Induction of puberty and sperm altogenesis by clomiphene citrate". Am J Med. 52 (3): 322–9. doi:10.1016/0002-9343(72)90019-8. PMID 5011391 : 5011391 Check |pmid= value (help).
  60. ↑ Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK; et al. (2017). "Noonan syndrome in diverse populations". Am J Med Genet A. 173 (9): 2323–2334. doi:10.1002/ajmg.a.38362. PMC 5710841. PMID 28748642.
  61. ↑ Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA; et al. (2008). "The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration". J Clin Endocrinol Metab. 93 (4): 1402–7. doi:10.1210/jc.2007-1897. PMID 18230663.
  62. ↑ Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB (1995). "Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients". Eur J Pediatr. 154 (12): 958–68. doi:10.1007/BF01958638. PMID 8801103.
  63. ↑ Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R (2013). "Adult height and epigenotype in children with Silver-Russell syndrome treated with GH". Horm Res Paediatr. 80 (3): 193–200. doi:10.1159/000354658. PMID 24051620.
  64. ↑ Ranke MB, Lindberg A, KIGS International Board (2010). "Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS". Horm Res Paediatr. 74 (4): 259–66. doi:10.1159/000289570. PMID 20431273.
  65. ↑ Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM; et al. (2015). "Paternally Inherited IGF2 Mutation and Growth Restriction". N Engl J Med. 373 (4): 349–56. doi:10.1056/NEJMoa1415227. PMID 26154720.
  66. ↑ Butler MG (2009). "Genomic imprinting disorders in humans: a mini-review". J Assist Reprod Genet. 26 (9–10): 477–86. doi:10.1007/s10815-009-9353-3. PMC 2788689. PMID 19844787.
  67. ↑ Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S; et al. (2020). "Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome". J Clin Endocrinol Metab. 105 (4). doi:10.1210/clinem/dgz151. PMID 31665337.
  68. ↑ Giabicani É, Boulé M, Aubertin G, Galliani E, Brioude F, Dubern B; et al. (2019). "Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome". Sleep Med. 64: 23–29. doi:10.1016/j.sleep.2019.05.020. PMID 31655321.
  69. ↑ Wakeling EL (2011). "Silver-Russell syndrome". Arch Dis Child. 96 (12): 1156–61. doi:10.1136/adc.2010.190165. PMID 21349887.
  70. ↑ Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N (2009). "Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation". Pediatrics. 123 (5): e929–31. doi:10.1542/peds.2008-3228. PMID 19364767.
  71. ↑ Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC (1999). "The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria". J Med Genet. 36 (11): 837–42. PMC 1734267. PMID 10544228.
  72. ↑ Toumba M, Albanese A, Azcona C, Stanhope R (2010). "Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome". Horm Res Paediatr. 74 (3): 212–7. doi:10.1159/000295924. PMID 20424422.
  73. ↑ de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM; et al. (2016). "Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia". Horm Res Paediatr. 86 (5): 342–348. doi:10.1159/000446476. PMC 5135661. PMID 27245183.
  74. ↑ Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J; et al. (2018). "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy". J Clin Endocrinol Metab. 103 (2): 604–614. doi:10.1210/jc.2017-02026. PMID 29155992.
  75. ↑ Hwang IT, Mizuno Y, Amano N, Lee HJ, Shim YS, Nam HK; et al. (2020). "Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations". Mol Genet Genomic Med. 8 (3): e1146. doi:10.1002/mgg3.1146. PMC 7057090 Check |pmc= value (help). PMID 31960617.
  76. ↑ Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N; et al. (2017). "Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations". J Clin Endocrinol Metab. 102 (2): 460–469. doi:10.1210/jc.2016-3313. PMC 5413162. PMID 27870580.
  77. ↑ Plachy L, Strakova V, Elblova L, Obermannova B, Kolouskova S, Snajderova M; et al. (2019). "High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH". J Clin Endocrinol Metab. 104 (10): 4273–4281. doi:10.1210/jc.2018-02288. PMID 30753492.
  78. ↑ Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J; et al. (2014). "Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients". Eur J Endocrinol. 170 (5): 677–84. doi:10.1530/EJE-13-0864. PMID 24536087.
  79. ↑ Yadav S, Dabas A (2015). "Approach to short stature". Indian J Pediatr. 82 (5): 462–70. doi:10.1007/s12098-014-1609-y. PMID 25465677 PMID: 25465677 Check |pmid= value (help).
  80. ↑ Hoffmann, Paul F.; Jung, Anna-Maria; Stierkorb, Eva; Monz, Dominik; Gortner, Ludwig; Rohrer, Tilman R. (2016). "Down Syndrome: Gestational Age-Related Neonatal Anthropometrics for Germany". Neonatology. 109 (3): 195–202. doi:10.1159/000442812. ISSN 1661-7800.
  81. ↑ Sankilampi U, Saari A, Laine T, Miettinen PJ, Dunkel L (2013). "Use of electronic health records for automated screening of growth disorders in primary care". JAMA. 310 (10): 1071–2. doi:10.1001/jama.2013.218793. PMID 24026604 PMID: 24026604 Check |pmid= value (help).
  82. ↑ Saari A, Sankilampi U, Hannila ML, Kiviniemi V, Kesseli K, Dunkel L (2011). "New Finnish growth references for children and adolescents aged 0 to 20 years: Length/height-for-age, weight-for-length/height, and body mass index-for-age". Ann Med. 43 (3): 235–48. doi:10.3109/07853890.2010.515603. PMID 20854213 PMID: 20854213 Check |pmid= value (help).
  83. ↑ Grote FK, Oostdijk W, de Muinck Keizer-Schrama SM, Dekker FW, Verkerk PH, Wit JM (2005). "Growth monitoring and diagnostic work-up of short stature: an international inventorization". J Pediatr Endocrinol Metab. 18 (11): 1031–8. doi:10.1515/jpem.2005.18.11.1031. PMID 16459448 PMID: 16459448 Check |pmid= value (help).
  84. ↑ Savage MO, Backeljauw PF, Calzada R, Cianfarani S, Dunkel L, Koledova E; et al. (2016). "Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders". Horm Res Paediatr. 85 (5): 325–32. doi:10.1159/000444525. PMID 27055026 PMID: 27055026 Check |pmid= value (help).
  85. ↑ van Buuren S, Bonnemaijer-Kerckhoffs DJ, Grote FK, Wit JM, Verkerk PH (2004). "Many referrals under Dutch short stature guidelines". Arch Dis Child. 89 (4): 351–2. doi:10.1136/adc.2003.038208. PMC 1719873. PMID 15033845 PMID: 15033845 Check |pmid= value (help).
  86. ↑ Sisley, Stephanie; Trujillo, Marcela Vargas; Khoury, Jane; Backeljauw, Philippe (2013). "Low Incidence of Pathology Detection and High Cost of Screening in the Evaluation of Asymptomatic Short Children". The Journal of Pediatrics. 163 (4): 1045–1051. doi:10.1016/j.jpeds.2013.04.002. ISSN 0022-3476.
  87. ↑ Saari A, Sankilampi U, Dunkel L (2013). "Multiethnic WHO growth charts may not be optimal in the screening of disorders affecting height: Turner syndrome as a model". JAMA Pediatr. 167 (2): 194–5. doi:10.1001/jamapediatrics.2013.436. PMID 23403988 PMID: 23403988 Check |pmid= value (help).
  88. ↑ Hong YH, Shin YL (2014). "Turner syndrome masquerading as normal early puberty". Ann Pediatr Endocrinol Metab. 19 (4): 225–8. doi:10.6065/apem.2014.19.4.225. PMC 4316414. PMID 25654070 PMID: 25654070 Check |pmid= value (help).
  89. ↑ Donaldson MD, Gault EJ, Tan KW, Dunger DB (2006). "Optimising management in Turner syndrome: from infancy to adult transfer". Arch Dis Child. 91 (6): 513–20. doi:10.1136/adc.2003.035907. PMC 2082783. PMID 16714725 PMID: 16714725 Check |pmid= value (help).
  90. ↑ Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH (2006). "Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome". J Clin Endocrinol Metab. 91 (10): 3897–902. doi:10.1210/jc.2006-0558. PMID 16849410 PMID: 16849410 Check |pmid= value (help).
  91. ↑ Binder G (2011). "Short stature due to SHOX deficiency: genotype, phenotype, and therapy". Horm Res Paediatr. 75 (2): 81–9. doi:10.1159/000324105. PMID 21325865 PMID: 21325865 Check |pmid= value (help).
  92. ↑ van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357 PMID: 17222357 Check |pmid= value (help).
  93. ↑ Hoepffner W, Pfäffle R, Gausche R, Meigen C, Keller E (2011). "Early detection of growth disorders with the CrescNet system at the Leipzig treatment center". Dtsch Arztebl Int. 108 (8): 123–8. doi:10.3238/arztebl.2011.0123. PMC 3055254. PMID 21403802 PMID: 21403802 Check |pmid= value (help).
  94. ↑ Scherdel P, Dunkel L, van Dommelen P, Goulet O, Salaün JF, Brauner R; et al. (2016). "Growth monitoring as an early detection tool: a systematic review". Lancet Diabetes Endocrinol. 4 (5): 447–56. doi:10.1016/S2213-8587(15)00392-7. PMID 26777129 PMID: 26777129 Check |pmid= value (help).
  95. ↑ Grimberg A, Huerta-Saenz L, Grundmeier R, Ramos MJ, Pati S, Cucchiara AJ; et al. (2015). "Gender Bias in U.S. Pediatric Growth Hormone Treatment". Sci Rep. 5: 11099. doi:10.1038/srep11099. PMC 4650610. PMID 26057697 PMID: 26057697 Check |pmid= value (help).
  96. ↑ Scherdel P, Dunkel L, van Dommelen P, Goulet O, Salaün JF, Brauner R; et al. (2016). "Growth monitoring as an early detection tool: a systematic review". Lancet Diabetes Endocrinol. 4 (5): 447–56. doi:10.1016/S2213-8587(15)00392-7. PMID 26777129 PMID: 26777129 Check |pmid= value (help).
  97. ↑ Growth Hormone Research Society (2000). "Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society". J Clin Endocrinol Metab. 85 (11): 3990–3. doi:10.1210/jcem.85.11.6984. PMID 11095419 PMID: 11095419 Check |pmid= value (help).
  98. ↑ Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB; et al. (2016). "Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency". Horm Res Paediatr. 86 (6): 361–397. doi:10.1159/000452150. PMID 27884013 PMID: 27884013 Check |pmid= value (help).
  99. ↑ Conway GS, Szarras-Czapnik M, Racz K, Keller A, Chanson P, Tauber M; et al. (2009). "Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency". Eur J Endocrinol. 160 (6): 899–907. doi:10.1530/EJE-08-0436. PMID 19324976 PMID: 19324976 Check |pmid= value (help).
  100. ↑ Cuttler L, Marinova D, Mercer MB, Connors A, Meehan R, Silvers JB (2009). "Patient, physician, and consumer drivers: referrals for short stature and access to specialty drugs". Med Care. 47 (8): 858–65. doi:10.1097/MLR.0b013e31819e1f04. PMID 19543124 PMID: 19543124 Check |pmid= value (help).
  101. ↑ Cuttler L, Silvers JB, Singh J, Marrero U, Finkelstein B, Tannin G; et al. (1996). "Short stature and growth hormone therapy. A national study of physician recommendation patterns". JAMA. 276 (7): 531–7. PMID 8709401 PMID: 8709401 Check |pmid= value (help).
  102. ↑ Silvers JB, Marinova D, Mercer MB, Connors A, Cuttler L (2010). "A national study of physician recommendations to initiate and discontinue growth hormone for short stature". Pediatrics. 126 (3): 468–76. doi:10.1542/peds.2009-3609. PMID 20805144 PMID: 20805144 Check |pmid= value (help).
  103. ↑ Cuttler L, Silvers JB (2010). "Growth hormone and health policy". J Clin Endocrinol Metab. 95 (7): 3149–53. doi:10.1210/jc.2009-2688. PMC 2928896. PMID 20427500 PMID: 20427500 Check |pmid= value (help).
  104. ↑ "Clinical and Ethical Issues In Managing Idiopathic Short Stature Addressed in New Guidelines".


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