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Biceps aplasia

MedGen UID:
812094
Concept ID:
C3805764
Finding
Synonym: Absent biceps
 
HPO: HP:0009783

Definition

Absence of the biceps muscle. [from HPO]

Conditions with this feature

Nail-patella syndrome
MedGen UID:
10257
Concept ID:
C0027341
Disease or Syndrome
Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage renal disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.

Professional guidelines

PubMed

Expert Panel on Musculoskeletal Imaging:, Small KM, Adler RS, Shah SH, Roberts CC, Bencardino JT, Appel M, Gyftopoulos S, Metter DF, Mintz DN, Morrison WB, Subhas N, Thiele R, Towers JD, Tynus KM, Weissman BN, Yu JS, Kransdorf MJ
J Am Coll Radiol 2018 Nov;15(11S):S388-S402. doi: 10.1016/j.jacr.2018.09.032. PMID: 30392607
Nam EK, Snyder SJ
Am J Sports Med 2003 Sep-Oct;31(5):798-810. doi: 10.1177/03635465030310052901. PMID: 12975206
Connell D, Padmanabhan R, Buchbinder R
Eur Radiol 2002 Aug;12(8):2100-6. Epub 2002 Mar 7 doi: 10.1007/s00330-002-1349-7. PMID: 12136330

Recent clinical studies

Etiology

Riek LM, Aronson A, Giust K, Putnam S, Froese H, Rutherford S, White MK
Top Spinal Cord Inj Rehabil 2023 Spring;29(2):43-55. Epub 2023 Dec 30 doi: 10.46292/sci21-00059. PMID: 37235191Free PMC Article
Silsby M, Fois AF, Yiannikas C, Ng K, Kiernan MC, Fung VSC, Vucic S
Eur J Neurol 2023 Apr;30(4):1059-1068. Epub 2023 Feb 12 doi: 10.1111/ene.15693. PMID: 36692234
Gupta HV, Skolka MP, Laughlin RS, Rubin DI
Muscle Nerve 2023 Feb;67(2):162-165. Epub 2022 Nov 30 doi: 10.1002/mus.27757. PMID: 36416248
Ripoll T, Solla F, Oborocianu I, Bertoncelli C, Rampal V
Orthop Traumatol Surg Res 2023 May;109(3):103316. Epub 2022 May 13 doi: 10.1016/j.otsr.2022.103316. PMID: 35569755
De Grove V, Buls N, Vandenbroucke F, Shahabpour M, Scafoglieri A, de Mey J, De Maeseneer M
Eur J Radiol 2021 Oct;143:109876. Epub 2021 Aug 9 doi: 10.1016/j.ejrad.2021.109876. PMID: 34419731

Diagnosis

Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG
Ann Clin Transl Neurol 2023 Aug;10(8):1442-1455. Epub 2023 Jul 22 doi: 10.1002/acn3.51834. PMID: 37483011Free PMC Article
Ripoll T, Solla F, Oborocianu I, Bertoncelli C, Rampal V
Orthop Traumatol Surg Res 2023 May;109(3):103316. Epub 2022 May 13 doi: 10.1016/j.otsr.2022.103316. PMID: 35569755
Woertler K
Semin Musculoskelet Radiol 2015 Jul;19(3):243-53. Epub 2015 May 28 doi: 10.1055/s-0035-1549318. PMID: 26021585
Beltran LS, Beltran J
Semin Musculoskelet Radiol 2014 Sep;18(4):425-35. Epub 2014 Sep 3 doi: 10.1055/s-0034-1384831. PMID: 25184397
Lyons RP, Green A
J Am Acad Orthop Surg 2005 Sep;13(5):353-63. doi: 10.5435/00124635-200509000-00009. PMID: 16148361

Therapy

Ripoll T, Solla F, Oborocianu I, Bertoncelli C, Rampal V
Orthop Traumatol Surg Res 2023 May;109(3):103316. Epub 2022 May 13 doi: 10.1016/j.otsr.2022.103316. PMID: 35569755
Vendrusculo FM, Bueno GS, Gheller MF, Campos NE, Schiwe D, de Almeida IS, Becker NA, Heinzmann-Filho JP, Donadio MVF
Int J Clin Pract 2021 May;75(5):e14050. Epub 2021 Feb 2 doi: 10.1111/ijcp.14050. PMID: 33497024
Samaranayake DBDL, Adikaram SGS, Atapattu N, Kendaragama KMDLD, Senevirathne JTN, Jayasekera HD, Wickramasinghe VP
BMC Pediatr 2020 Sep 5;20(1):426. doi: 10.1186/s12887-020-02329-w. PMID: 32891139Free PMC Article
Beraldo RA, Meliscki GC, Silva BR, Navarro AM, Bollela VR, Schmidt A, Foss-Freitas MC
Am J Clin Nutr 2018 Jun 1;107(6):883-893. doi: 10.1093/ajcn/nqy049. PMID: 29868914
Steurer-Dober I, Rufibach K, Hodler J, Saupe N, Zanetti M, Fucentese SF, Pfirrmann CW
Radiology 2010 Sep;256(3):870-8. doi: 10.1148/radiol.10091671. PMID: 20720072

Prognosis

Zeng X, Shi ZW, Yu JJ, Wang LF, Sun CY, Luo YY, Shi PM, Lin Y, Chen YX, Guo J, Zhang CQ, Xie WF
Hepatol Int 2024 Apr;18(2):673-687. Epub 2023 Jun 18 doi: 10.1007/s12072-023-10497-x. PMID: 37332023
Lin TY, Shen PC, Chang KV, Wu WT, Özçakar L
J Rehabil Med 2023 Aug 21;55:jrm13432. doi: 10.2340/jrm.v55.13432. PMID: 37615388Free PMC Article
Chakravarthi KK, Sarvepalli A, Siddegowda SK, Nelluri V
Ann Afr Med 2023 Jul-Sep;22(3):359-364. doi: 10.4103/aam.aam_93_22. PMID: 37417026Free PMC Article
Habets LE, Bartels B, Asselman FL, Hooijmans MT, van den Berg S, Nederveen AJ, van der Pol WL, Jeneson JAL
Brain 2022 May 24;145(4):1422-1435. doi: 10.1093/brain/awab411. PMID: 34788410Free PMC Article
Lyons RP, Green A
J Am Acad Orthop Surg 2005 Sep;13(5):353-63. doi: 10.5435/00124635-200509000-00009. PMID: 16148361

Clinical prediction guides

Zeng X, Shi ZW, Yu JJ, Wang LF, Sun CY, Luo YY, Shi PM, Lin Y, Chen YX, Guo J, Zhang CQ, Xie WF
Hepatol Int 2024 Apr;18(2):673-687. Epub 2023 Jun 18 doi: 10.1007/s12072-023-10497-x. PMID: 37332023
Lin TY, Shen PC, Chang KV, Wu WT, Özçakar L
J Rehabil Med 2023 Aug 21;55:jrm13432. doi: 10.2340/jrm.v55.13432. PMID: 37615388Free PMC Article
Ripoll T, Solla F, Oborocianu I, Bertoncelli C, Rampal V
Orthop Traumatol Surg Res 2023 May;109(3):103316. Epub 2022 May 13 doi: 10.1016/j.otsr.2022.103316. PMID: 35569755
De Grove V, Buls N, Vandenbroucke F, Shahabpour M, Scafoglieri A, de Mey J, De Maeseneer M
Eur J Radiol 2021 Oct;143:109876. Epub 2021 Aug 9 doi: 10.1016/j.ejrad.2021.109876. PMID: 34419731
Rodeo SA, Nguyen JT, Cavanaugh JT, Patel Y, Adler RS
Am J Sports Med 2016 Dec;44(12):3214-3221. Epub 2016 Aug 9 doi: 10.1177/0363546516657823. PMID: 27507844

Recent systematic reviews

Ibounig T, Sanders S, Haas R, Jones M, Järvinen TL, Taimela S, Docking S, Rämö L, Buchbinder R
Osteoarthritis Cartilage 2024 Oct;32(10):1184-1196. Epub 2024 Jun 12 doi: 10.1016/j.joca.2024.06.001. PMID: 38876437
Lin TY, Shen PC, Chang KV, Wu WT, Özçakar L
J Rehabil Med 2023 Aug 21;55:jrm13432. doi: 10.2340/jrm.v55.13432. PMID: 37615388Free PMC Article
Milani GP, Mazzoni MBM, Gatti H, Bertolozzi G, Fossali EF
Pediatr Neurol 2017 Jun;71:77-81.e1. Epub 2017 Jan 24 doi: 10.1016/j.pediatrneurol.2017.01.002. PMID: 28476523

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