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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 kidney 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

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
Kho JSB, Botchu R, Rushton A, James SL
Skeletal Radiol 2022 Mar;51(3):557-564. Epub 2021 Jul 6 doi: 10.1007/s00256-021-03857-x. PMID: 34228195Free PMC Article
Bloom DA, Essilfie AA, Lott A, Alaia EF, Hurley ET, Grapperhaus S, Campbell KA, Jazrawi LM, Alaia MJ
Knee 2020 Dec;27(6):1874-1880. Epub 2020 Nov 15 doi: 10.1016/j.knee.2020.07.085. PMID: 33202291
Thankam FG, Boosani CS, Dilisio MF, Dietz NE, Agrawal DK
PLoS One 2016;11(12):e0168077. Epub 2016 Dec 16 doi: 10.1371/journal.pone.0168077. PMID: 27992561Free PMC Article
Abbruzzese G, Tabaton M, Morena M, Dall'Agata D, Favale E
Mov Disord 1991;6(1):49-54. doi: 10.1002/mds.870060109. PMID: 1848678

Diagnosis

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
Kho JSB, Botchu R, Rushton A, James SL
Skeletal Radiol 2022 Mar;51(3):557-564. Epub 2021 Jul 6 doi: 10.1007/s00256-021-03857-x. PMID: 34228195Free PMC Article
Bloom DA, Essilfie AA, Lott A, Alaia EF, Hurley ET, Grapperhaus S, Campbell KA, Jazrawi LM, Alaia MJ
Knee 2020 Dec;27(6):1874-1880. Epub 2020 Nov 15 doi: 10.1016/j.knee.2020.07.085. PMID: 33202291
Woertler K
Semin Musculoskelet Radiol 2015 Jul;19(3):243-53. Epub 2015 May 28 doi: 10.1055/s-0035-1549318. PMID: 26021585
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
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
Fujii T, Takase KI, Honda H, Kawamura N, Yamasaki R, Urata M, Uchiumi T, Iwaki T, Kira JI
Neuropathology 2019 Apr;39(2):162-167. Epub 2019 Mar 7 doi: 10.1111/neup.12548. PMID: 30847961
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
Miniaci A, Mascia AT, Salonen DC, Becker EJ
Am J Sports Med 2002 Jan-Feb;30(1):66-73. doi: 10.1177/03635465020300012501. PMID: 11798999

Prognosis

Bloom DA, Essilfie AA, Lott A, Alaia EF, Hurley ET, Grapperhaus S, Campbell KA, Jazrawi LM, Alaia MJ
Knee 2020 Dec;27(6):1874-1880. Epub 2020 Nov 15 doi: 10.1016/j.knee.2020.07.085. PMID: 33202291
Wysiadecki G, Polguj M, Haładaj R, Topol M
Anat Sci Int 2017 Mar;92(2):293-298. Epub 2016 Sep 15 doi: 10.1007/s12565-016-0371-9. PMID: 27631096Free PMC Article
Kim BS, Kim SH, Cho SS, Yoon SP
Surg Radiol Anat 2014 Sep;36(7):721-3. Epub 2013 Oct 26 doi: 10.1007/s00276-013-1224-z. PMID: 24158352
Lyons RP, Green A
J Am Acad Orthop Surg 2005 Sep;13(5):353-63. doi: 10.5435/00124635-200509000-00009. PMID: 16148361
Cozens JA, Miller S, Chambers IR, Mendelow AD
J Neurol Neurosurg Psychiatry 2000 May;68(5):581-8. doi: 10.1136/jnnp.68.5.581. PMID: 10766887Free PMC Article

Clinical prediction guides

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
Olewnik Ł, Szewczyk B, Zielinska N, Grzelecki D, Polguj M
Surg Radiol Anat 2021 May;43(5):735-739. Epub 2021 Feb 15 doi: 10.1007/s00276-021-02706-9. PMID: 33590265Free PMC Article
Soni S, Rath G, Suri R, Kumar H
Anat Sci Int 2008 Dec;83(4):310-3. doi: 10.1111/j.1447-073X.2008.00234.x. PMID: 19159367
Cozens JA, Miller S, Chambers IR, Mendelow AD
J Neurol Neurosurg Psychiatry 2000 May;68(5):581-8. doi: 10.1136/jnnp.68.5.581. PMID: 10766887Free PMC Article
Gilbert A, Brockman R, Carlioz H
Clin Orthop Relat Res 1991 Mar;(264):39-47. PMID: 1847671

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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