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Abnormal shoulder morphology

MedGen UID:
871182
Concept ID:
C4025659
Anatomical Abnormality
Synonym: Abnormality of the shoulder
 
HPO: HP:0003043

Definition

An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. [from HPO]

Conditions with this feature

Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.

Professional guidelines

PubMed

Ponte C, Grayson PC, Robson JC, Suppiah R, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Watts RA, Merkel PA, Luqmani RA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1647-1653. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223480. PMID: 36351706
Ponte C, Grayson PC, Robson JC, Suppiah R, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Watts RA, Merkel PA, Luqmani RA; DCVAS Study Group
Arthritis Rheumatol 2022 Dec;74(12):1881-1889. Epub 2022 Nov 8 doi: 10.1002/art.42325. PMID: 36350123
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Savage SA
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. PMID: 36485133Free PMC Article
Hammad IA, Blue NR, Allshouse AA, Silver RM, Gibbins KJ, Page JM, Goldenberg RL, Reddy UM, Saade GR, Dudley DJ, Thorsten VR, Conway DL, Pinar H, Pysher TJ; NICHD Stillbirth Collaborative Research Network Group
Obstet Gynecol 2020 Mar;135(3):644-652. doi: 10.1097/AOG.0000000000003676. PMID: 32028503Free PMC Article
Davis KW
Radiol Clin North Am 2010 Nov;48(6):1199-211. doi: 10.1016/j.rcl.2010.07.020. PMID: 21094406
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Diagnosis

Mastroianni A, Mauro MV
Clin Neuropathol 2022 May-Jun;41(3):135-144. doi: 10.5414/NP301409. PMID: 35142284
Rubin DA
Magn Reson Imaging Clin N Am 2020 May;28(2):285-300. Epub 2020 Feb 17 doi: 10.1016/j.mric.2019.12.010. PMID: 32241664
Ha AS, Petscavage-Thomas JM, Tagoylo GH
AJR Am J Roentgenol 2014 Feb;202(2):375-85. doi: 10.2214/AJR.13.11460. PMID: 24450680
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article
Resnick D
Orthop Clin North Am 1983 Jan;14(1):81-97. PMID: 6338450

Therapy

Parisien RL, Constant M, Saltzman BM, Popkin CA, Ahmad CS, Li X, Trofa DP
Cartilage 2021 Dec;13(1_suppl):147S-155S. Epub 2021 May 10 doi: 10.1177/19476035211012458. PMID: 33969744Free PMC Article
Khetarpal S, Sood A, Billings SD
Dermatol Online J 2016 Aug 15;22(8) PMID: 27617940
Leigh B
Best Pract Res Clin Obstet Gynaecol 2013 Aug;27(4):631-40. Epub 2013 Jun 27 doi: 10.1016/j.bpobgyn.2013.04.005. PMID: 23810168
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277
Cagliero E
Curr Rheumatol Rep 2003 Jun;5(3):189-94. doi: 10.1007/s11926-003-0065-x. PMID: 12744809

Prognosis

Mastroianni A, Mauro MV
Clin Neuropathol 2022 May-Jun;41(3):135-144. doi: 10.5414/NP301409. PMID: 35142284
Rubin DA
Magn Reson Imaging Clin N Am 2020 May;28(2):285-300. Epub 2020 Feb 17 doi: 10.1016/j.mric.2019.12.010. PMID: 32241664
Hasan SA, Shiu B, Jauregui JJ
J Am Acad Orthop Surg 2018 Nov 15;26(22):789-797. doi: 10.5435/JAAOS-D-17-00011. PMID: 30199476
Khairouni A, Bensahel H, Csukonyi Z, Desgrippes Y, Pennecot GF
J Pediatr Orthop B 2002 Jan;11(1):85-8. doi: 10.1097/00009957-200201000-00014. PMID: 11866088
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Clinical prediction guides

Ponte C, Grayson PC, Robson JC, Suppiah R, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Watts RA, Merkel PA, Luqmani RA; DCVAS Study Group
Ann Rheum Dis 2022 Dec;81(12):1647-1653. Epub 2022 Nov 9 doi: 10.1136/ard-2022-223480. PMID: 36351706
Ponte C, Grayson PC, Robson JC, Suppiah R, Gribbons KB, Judge A, Craven A, Khalid S, Hutchings A, Watts RA, Merkel PA, Luqmani RA; DCVAS Study Group
Arthritis Rheumatol 2022 Dec;74(12):1881-1889. Epub 2022 Nov 8 doi: 10.1002/art.42325. PMID: 36350123
Mastroianni A, Mauro MV
Clin Neuropathol 2022 May-Jun;41(3):135-144. doi: 10.5414/NP301409. PMID: 35142284
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Davis KW
Radiol Clin North Am 2010 Nov;48(6):1199-211. doi: 10.1016/j.rcl.2010.07.020. PMID: 21094406

Recent systematic reviews

Parisien RL, Constant M, Saltzman BM, Popkin CA, Ahmad CS, Li X, Trofa DP
Cartilage 2021 Dec;13(1_suppl):147S-155S. Epub 2021 May 10 doi: 10.1177/19476035211012458. PMID: 33969744Free PMC Article
Jump CM, Duke K, Malik RA, Charalambous CP
JBJS Rev 2021 Jan 26;9(1):e19.00153. doi: 10.2106/JBJS.RVW.19.00153. PMID: 33512972
Andronic O, Ernstbrunner L, Jüngel A, Wieser K, Bouaicha S
Connect Tissue Res 2020 Nov;61(6):509-516. Epub 2019 Aug 7 doi: 10.1080/03008207.2019.1648445. PMID: 31340682
Tran G, Cowling P, Smith T, Bury J, Lucas A, Barr A, Kingsbury SR, Conaghan PG
Arthritis Care Res (Hoboken) 2018 Aug;70(8):1169-1184. Epub 2018 Jun 6 doi: 10.1002/acr.23554. PMID: 29513925Free PMC Article
Yammine K
Clin Anat 2014 May;27(4):610-21. Epub 2013 Dec 2 doi: 10.1002/ca.22343. PMID: 24302513

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