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Severe short stature

MedGen UID:
500957
Concept ID:
CN003167
Finding
Synonyms: Dwarfism; Proportionate dwarfism
 

Definition

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [from HPO]

Recent clinical studies

Etiology

Joel DR, Mabikwa V, Makhanda J, Tolle MA, Anabwani GM, Ahmed SF
J Int Assoc Provid AIDS Care 2014 Nov-Dec;13(6):529-33. Epub 2014 Apr 21 doi: 10.1177/2325957414531621. [Epub ahead of print] PMID: 24752886
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Ahmad F, Alam S, Shukla I, Sherwani R, Ali SM
Indian J Pediatr 2010 Apr;77(4):387-90. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0040-2. [Epub ahead of print] PMID: 20422329
Oliveira CR, Salvatori R, Nóbrega LM, Carvalho EO, Menezes M, Farias CT, Britto AV, Pereira RM, Aguiar-Oliveira MH
Clin Endocrinol (Oxf) 2008 Jul;69(1):153-8. Epub 2008 Jul 1 doi: 10.1111/j.1365-2265.2007.03148.x. [Epub ahead of print] PMID: 18034778Free PMC Article
Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K; GH Treatment Study Committee, The Foundation for Growth Science, Japan
Endocr J 2005 Feb;52(1):37-43. PMID: 15758556

Diagnosis

Shukla A, Phadke SR
Clin Dysmorphol 2015 Jul;24(3):118-21. doi: 10.1097/MCD.0000000000000076. PMID: 25602717
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V, Cowell CT
J Clin Endocrinol Metab 2012 Feb;97(2):E243-7. Epub 2011 Nov 30 doi: 10.1210/jc.2011-2142. [Epub ahead of print] PMID: 22130793
Ahmad F, Alam S, Shukla I, Sherwani R, Ali SM
Indian J Pediatr 2010 Apr;77(4):387-90. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0040-2. [Epub ahead of print] PMID: 20422329
Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K; GH Treatment Study Committee, The Foundation for Growth Science, Japan
Endocr J 2005 Feb;52(1):37-43. PMID: 15758556

Therapy

Joel DR, Mabikwa V, Makhanda J, Tolle MA, Anabwani GM, Ahmed SF
J Int Assoc Provid AIDS Care 2014 Nov-Dec;13(6):529-33. Epub 2014 Apr 21 doi: 10.1177/2325957414531621. [Epub ahead of print] PMID: 24752886
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. [Epub ahead of print] PMID: 19850687
Oliveira CR, Salvatori R, Nóbrega LM, Carvalho EO, Menezes M, Farias CT, Britto AV, Pereira RM, Aguiar-Oliveira MH
Clin Endocrinol (Oxf) 2008 Jul;69(1):153-8. Epub 2008 Jul 1 doi: 10.1111/j.1365-2265.2007.03148.x. [Epub ahead of print] PMID: 18034778Free PMC Article
Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K; GH Treatment Study Committee, The Foundation for Growth Science, Japan
Endocr J 2005 Feb;52(1):37-43. PMID: 15758556
Walvoord EC, Sloop KW, Dwyer CJ, Rhodes SJ, Pescovitz OH
Endocrine 2003 Aug;21(3):289-95. doi: 10.1385/ENDO:21:3:289. PMID: 14515015

Prognosis

Miletta MC, Eblé A, Janner M, Parween S, Pandey AV, Flück CE, Mullis PE
J Clin Endocrinol Metab 2015 Dec;100(12):E1575-83. Epub 2015 Oct 20 doi: 10.1210/jc.2015-3265. [Epub ahead of print] PMID: 26485222
Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M
BMC Med Genet 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. [Epub ahead of print] PMID: 26297663Free PMC Article
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V, Cowell CT
J Clin Endocrinol Metab 2012 Feb;97(2):E243-7. Epub 2011 Nov 30 doi: 10.1210/jc.2011-2142. [Epub ahead of print] PMID: 22130793
Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K; GH Treatment Study Committee, The Foundation for Growth Science, Japan
Endocr J 2005 Feb;52(1):37-43. PMID: 15758556

Clinical prediction guides

de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A
J Clin Endocrinol Metab 2015 May;100(5):E789-98. Epub 2015 Mar 5 doi: 10.1210/jc.2015-1098. [Epub ahead of print] PMID: 25742519Free PMC Article
Joel DR, Mabikwa V, Makhanda J, Tolle MA, Anabwani GM, Ahmed SF
J Int Assoc Provid AIDS Care 2014 Nov-Dec;13(6):529-33. Epub 2014 Apr 21 doi: 10.1177/2325957414531621. [Epub ahead of print] PMID: 24752886
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Fang P, Cho YH, Derr MA, Rosenfeld RG, Hwa V, Cowell CT
J Clin Endocrinol Metab 2012 Feb;97(2):E243-7. Epub 2011 Nov 30 doi: 10.1210/jc.2011-2142. [Epub ahead of print] PMID: 22130793
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. [Epub ahead of print] PMID: 19850687

Recent systematic reviews

Dauber A, Rosenfeld RG, Hirschhorn JN
J Clin Endocrinol Metab 2014 Sep;99(9):3080-92. Epub 2014 Jun 10 doi: 10.1210/jc.2014-1506. [Epub ahead of print] PMID: 24915122Free PMC Article
Grote FK, van Dommelen P, Oostdijk W, de Muinck Keizer-Schrama SM, Verkerk PH, Wit JM, van Buuren S
Arch Dis Child 2008 Mar;93(3):212-7. Epub 2007 Oct 1 doi: 10.1136/adc.2007.120188. [Epub ahead of print] PMID: 17908714
Wheeler PG, Bresnahan K, Shephard BA, Lau J, Balk EM
Arch Pediatr Adolesc Med 2004 Mar;158(3):236-43. doi: 10.1001/archpedi.158.3.236. PMID: 14993082

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