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Abnormality of the humerus

MedGen UID:
867377
Concept ID:
C4021742
Anatomical Abnormality
Synonym: Abnormality of the humeri
 
HPO: HP:0003063

Definition

An abnormality of the humerus (i.e., upper arm bone). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the humerus

Conditions with this feature

Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.

Professional guidelines

Recent clinical studies

Etiology

Bégué T, Mouchantaf M, Aurégan JC
Orthop Traumatol Surg Res 2023 Feb;109(1S):103462. Epub 2022 Oct 29 doi: 10.1016/j.otsr.2022.103462. PMID: 36942794
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH
Ultrasound Obstet Gynecol 2013 Mar;41(3):247-61. Epub 2013 Jan 24 doi: 10.1002/uog.12364. PMID: 23208748
Escamilla RF, Yamashiro K, Paulos L, Andrews JR
Sports Med 2009;39(8):663-85. doi: 10.2165/00007256-200939080-00004. PMID: 19769415

Diagnosis

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
You T, Frostick S, Zhang WT, Yin Q
Orthop Surg 2019 Oct;11(5):738-744. Epub 2019 Sep 5 doi: 10.1111/os.12518. PMID: 31486589Free PMC Article
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH
Ultrasound Obstet Gynecol 2013 Mar;41(3):247-61. Epub 2013 Jan 24 doi: 10.1002/uog.12364. PMID: 23208748
Resnick D
Orthop Clin North Am 1983 Jan;14(1):81-97. PMID: 6338450

Therapy

Lee DH, Choi YS, Potter HG, Endo Y, Sivakumaran T, Lim TK, Chun TJ
Skeletal Radiol 2020 Jan;49(1):19-30. Epub 2019 Jul 18 doi: 10.1007/s00256-019-03275-0. PMID: 31321452
Malot R, Park KW, Song SH, Kwon HN, Song HR
Acta Orthop 2013 Jun;84(3):280-5. Epub 2013 Mar 19 doi: 10.3109/17453674.2013.786636. PMID: 23506166Free PMC Article
Brauer CA, Lee BM, Bae DS, Waters PM, Kocher MS
J Pediatr Orthop 2007 Mar;27(2):181-6. doi: 10.1097/bpo.0b013e3180316cf1. PMID: 17314643
Lee FY, Schoeb JS, Yu J, Christiansen BD, Dick HM
J Pediatr Orthop 2005 Sep-Oct;25(5):613-6. doi: 10.1097/01.bpo.0000164868.97060.bb. PMID: 16199941
Friedman RJ
Orthop Clin North Am 1998 Jul;29(3):393-402. doi: 10.1016/s0030-5898(05)70015-8. PMID: 9706286

Prognosis

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Arner JW, Ruzbarsky JJ, Millett PJ
Arthroscopy 2022 Apr;38(4):1035-1036. doi: 10.1016/j.arthro.2022.01.033. PMID: 35369910
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
Basha A, Amarin Z, Abu-Hassan F
Int J Gynaecol Obstet 2013 Nov;123(2):127-30. Epub 2013 Jul 30 doi: 10.1016/j.ijgo.2013.05.013. PMID: 23992623

Clinical prediction guides

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Arner JW, Ruzbarsky JJ, Millett PJ
Arthroscopy 2022 Apr;38(4):1035-1036. doi: 10.1016/j.arthro.2022.01.033. PMID: 35369910
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Recent systematic reviews

Veiga-Fernández A, Joigneau Prieto L, Álvarez T, Ruiz Y, Pérez R, Gámez F, Ortega Abad V, Yllana F, De León-Luis J
J Matern Fetal Neonatal Med 2020 Jul;33(14):2493-2504. Epub 2019 Jan 17 doi: 10.1080/14767058.2018.1552935. PMID: 30652519
Brauer CA, Lee BM, Bae DS, Waters PM, Kocher MS
J Pediatr Orthop 2007 Mar;27(2):181-6. doi: 10.1097/bpo.0b013e3180316cf1. PMID: 17314643

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