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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
Khan Durrani MY, Sohail AH, Khan I, Hashmi P
J Ayub Med Coll Abbottabad 2018 Jan-Mar;30(1):135-137. PMID: 29504352
Pesquer L, Borghol S, Meyer P, Ropars M, Dallaudière B, Abadie P
Skeletal Radiol 2018 Jul;47(7):923-937. Epub 2018 Feb 14 doi: 10.1007/s00256-018-2875-y. PMID: 29445933
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

Diagnosis

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
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
Khan Durrani MY, Sohail AH, Khan I, Hashmi P
J Ayub Med Coll Abbottabad 2018 Jan-Mar;30(1):135-137. PMID: 29504352
Woertler K
Semin Musculoskelet Radiol 2015 Jul;19(3):243-53. Epub 2015 May 28 doi: 10.1055/s-0035-1549318. PMID: 26021585
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

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
Harvey EJ, Bernstein M, Desy NM, Saran N, Ouellet JA
J Am Acad Orthop Surg 2012 Mar;20(3):177-86. doi: 10.5435/JAAOS-20-03-177. PMID: 22382290
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277
Noël E, Thomas T, Schaeverbeke T, Thomas P, Bonjean M, Revel M
Joint Bone Spine 2000;67(5):393-400. PMID: 11143905
Resnick D
Radiol Clin North Am 1981 Jun;19(2):243-53. PMID: 7280201

Prognosis

Mastroianni A, Mauro MV
Clin Neuropathol 2022 May-Jun;41(3):135-144. doi: 10.5414/NP301409. PMID: 35142284
Gannon NP, Wise KL, Knudsen ML
JBJS Rev 2021 Mar 18;9(3) doi: 10.2106/JBJS.RVW.20.00089. PMID: 33735155
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
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
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
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

Recent systematic reviews

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
Luedke C, Kissenberth MJ, Tolan SJ, Hawkins RJ, Tokish JM
JBJS Rev 2018 Apr;6(4):e7. doi: 10.2106/JBJS.RVW.17.00112. PMID: 29664870
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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