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Pygmy

MedGen UID:
376605
Concept ID:
C1849524
Disease or Syndrome
Synonym: PYGMY, AFRICAN
 
OMIM®: 265850

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Abnormality of the endocrine system
MedGen UID:
893021
Concept ID:
C4025823
Anatomical Abnormality
An abnormality of the endocrine system.

Professional guidelines

PubMed

Mamimandjiami AI, Mouinga-Ondémé A, Ramassamy JL, Djuicy DD, Afonso PV, Mahé A, Lekana-Douki JB, Cassar O, Gessain A
Viruses 2021 Jan 25;13(2) doi: 10.3390/v13020175. PMID: 33503816Free PMC Article
Delk KW, Eshar D, Garcia E, Harkin K
J Small Anim Pract 2014 Mar;55(3):174-7. Epub 2013 Dec 23 doi: 10.1111/jsap.12169. PMID: 24372164
Verschoor EJ, Langenhuijzen S, Heeney JL
J Gen Virol 1999 Sep;80 ( Pt 9):2491-2499. doi: 10.1099/0022-1317-80-9-2491. PMID: 10501506

Recent clinical studies

Etiology

Hinkle D, Eshar D
Vet Clin North Am Exot Anim Pract 2024 May;27(2):221-227. Epub 2023 Dec 14 doi: 10.1016/j.cvex.2023.11.005. PMID: 38097492
Wall JD, Ratan A, Stawiski E; GenomeAsia 100K Consortium
Am J Hum Genet 2019 Dec 5;105(6):1254-1261. doi: 10.1016/j.ajhg.2019.11.005. PMID: 31809748Free PMC Article
Rowold DJ, Perez-Benedico D, Stojkovic O, Alfonso-Sanchez MA, Garcia-Bertrand R, Herrera RJ
Gene 2016 Nov 15;593(1):48-57. Epub 2016 Jul 19 doi: 10.1016/j.gene.2016.07.044. PMID: 27451076
Ohenjo N, Willis R, Jackson D, Nettleton C, Good K, Mugarura B
Lancet 2006 Jun 10;367(9526):1937-46. doi: 10.1016/S0140-6736(06)68849-1. PMID: 16765763
Rosen T
South Med J 2000 Sep;93(9):936-8. PMID: 11005362

Diagnosis

Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS, Aguirre GA, Martín Del Estal I, Castilla de Cortázar Larrea MI, Massoud A, van Duyvenvoorde HA, De Bruin C, Hwa V, Klonisch T, Hombach-Klonisch S, Storr HL
JCI Insight 2024 Feb 20;9(6) doi: 10.1172/jci.insight.169425. PMID: 38516887Free PMC Article
Bylicka-Szczepanowska E, Podlasin RB, Korzeniewski K
Ann Agric Environ Med 2023 Sep 28;30(3):570-576. Epub 2023 Mar 7 doi: 10.26444/aaem/161465. PMID: 37772537
Keeble E, Koterwas B
Vet Clin North Am Exot Anim Pract 2020 May;23(2):459-470. doi: 10.1016/j.cvex.2020.01.011. PMID: 32327048
Mann D, Hill-Cook M, Manire C, Greenhow D, Montie E, Powell J, Wells R, Bauer G, Cunningham-Smith P, Lingenfelser R, DiGiovanni R Jr, Stone A, Brodsky M, Stevens R, Kieffer G, Hoetjes P
PLoS One 2010 Nov 3;5(11):e13824. doi: 10.1371/journal.pone.0013824. PMID: 21072206Free PMC Article
Hochberg Z
Horm Res Paediatr 2010;73(6):430-7. Epub 2010 Apr 15 doi: 10.1159/000282109. PMID: 20395652

Therapy

Kostick N, O'Loughlin K
J Emerg Med 2021 Oct;61(4):e93-e95. Epub 2021 Jun 24 doi: 10.1016/j.jemermed.2021.04.021. PMID: 34175189
Lazarovici P, Marcinkiewicz C, Lelkes PI
Toxins (Basel) 2019 May 27;11(5) doi: 10.3390/toxins11050303. PMID: 31137917Free PMC Article
King AM, Crim WS, Menke NB, Pizon AF
Toxicon 2012 Dec 1;60(7):1287-9. Epub 2012 Aug 30 doi: 10.1016/j.toxicon.2012.08.007. PMID: 22963729
Sun JX, Mullikin JC, Patterson N, Reich DE
Mol Biol Evol 2009 May;26(5):1017-27. Epub 2009 Feb 12 doi: 10.1093/molbev/msp025. PMID: 19221007Free PMC Article
Rosen T
South Med J 2000 Sep;93(9):936-8. PMID: 11005362

Prognosis

Venkataraman VV, Yegian AK, Wallace IJ, Holowka NB, Tacey I, Gurven M, Kraft TS
Proc Biol Sci 2018 Nov 7;285(1890) doi: 10.1098/rspb.2018.1492. PMID: 30404871Free PMC Article
Butler EE, Dominy NJ
J Anat 2016 Apr;228(4):561-8. Epub 2015 Dec 29 doi: 10.1111/joa.12432. PMID: 26712532Free PMC Article
Hochberg Z
Horm Res Paediatr 2010;73(6):430-7. Epub 2010 Apr 15 doi: 10.1159/000282109. PMID: 20395652
Ohenjo N, Willis R, Jackson D, Nettleton C, Good K, Mugarura B
Lancet 2006 Jun 10;367(9526):1937-46. doi: 10.1016/S0140-6736(06)68849-1. PMID: 16765763
Rosen T
South Med J 2000 Sep;93(9):936-8. PMID: 11005362

Clinical prediction guides

Rowold DJ, Perez-Benedico D, Stojkovic O, Alfonso-Sanchez MA, Garcia-Bertrand R, Herrera RJ
Gene 2016 Nov 15;593(1):48-57. Epub 2016 Jul 19 doi: 10.1016/j.gene.2016.07.044. PMID: 27451076
Butler EE, Dominy NJ
J Anat 2016 Apr;228(4):561-8. Epub 2015 Dec 29 doi: 10.1111/joa.12432. PMID: 26712532Free PMC Article
Hochberg Z
Horm Res Paediatr 2010;73(6):430-7. Epub 2010 Apr 15 doi: 10.1159/000282109. PMID: 20395652
Goodwin G
Int J Biochem Cell Biol 1998 Jul;30(7):761-6. doi: 10.1016/s1357-2725(98)00016-8. PMID: 9722980
Ruvolo M, Pan D, Zehr S, Goldberg T, Disotell TR, von Dornum M
Proc Natl Acad Sci U S A 1994 Sep 13;91(19):8900-4. doi: 10.1073/pnas.91.19.8900. PMID: 8090741Free PMC Article

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