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Quadriceps aplasia

MedGen UID:
812095
Concept ID:
C3805765
Finding
Synonym: Absent quads
 
HPO: HP:0009788

Definition

Absence of the quadriceps 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

Merchant AC, Fulkerson JP, Leadbetter W
Am J Orthop (Belle Mead NJ) 2017 Mar/Apr;46(2):68-75. PMID: 28437490
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697
Shelton GL
Prim Care 1992 Jun;19(2):331-50. PMID: 1609008

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
Mariampillai K, Granger B, Amelin D, Guiguet M, Hachulla E, Maurier F, Meyer A, Tohmé A, Charuel JL, Musset L, Allenbach Y, Benveniste O
JAMA Neurol 2018 Dec 1;75(12):1528-1537. doi: 10.1001/jamaneurol.2018.2598. PMID: 30208379Free PMC Article
Clark D, Metcalfe A, Wogan C, Mandalia V, Eldridge J
Bone Joint J 2017 Feb;99-B(2):159-170. doi: 10.1302/0301-620X.99B2.BJJ-2016-0256.R1. PMID: 28148656
Chotel F, Bérard J, Raux S
Orthop Traumatol Surg Res 2014 Feb;100(1 Suppl):S125-37. Epub 2014 Jan 10 doi: 10.1016/j.otsr.2013.06.014. PMID: 24412258
Ferretti A, Ippolito E, Mariani P, Puddu G
Am J Sports Med 1983 Mar-Apr;11(2):58-62. doi: 10.1177/036354658301100202. PMID: 6846682

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
Pharis H, Kong A, Robbins M, Waranch C, Wissman R
J Knee Surg 2022 Apr;35(5):491-497. Epub 2022 Feb 21 doi: 10.1055/s-0042-1743222. PMID: 35189665
Merchant AC, Fulkerson JP, Leadbetter W
Am J Orthop (Belle Mead NJ) 2017 Mar/Apr;46(2):68-75. PMID: 28437490
Clark D, Metcalfe A, Wogan C, Mandalia V, Eldridge J
Bone Joint J 2017 Feb;99-B(2):159-170. doi: 10.1302/0301-620X.99B2.BJJ-2016-0256.R1. PMID: 28148656
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697

Therapy

Xiaojun Z, Ming M, Jianye G, Wudong S, Yi Q, Jun C, Ningqinq H, Panpan F
Trials 2023 Nov 9;24(1):714. doi: 10.1186/s13063-023-07759-2. PMID: 37946263Free 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
Donen GS, White Z, Sauge E, Ritso M, Theret M, Boyd J, Devlin AM, Rossi FMV, Bernatchez P
Muscle Nerve 2022 Oct;66(4):513-522. Epub 2022 Aug 2 doi: 10.1002/mus.27680. PMID: 35859452
Souweine JS, Gouzi F, Badia É, Pomies P, Garrigue V, Morena M, Hayot M, Mercier J, Ayoub B, Quintrec ML, Raynaud F, Cristol JP
Clin J Am Soc Nephrol 2021 Nov;16(11):1676-1685. doi: 10.2215/CJN.02390221. PMID: 34750160Free PMC Article
Amato AA, Barohn RJ
J Neurol Neurosurg Psychiatry 2009 Nov;80(11):1186-93. doi: 10.1136/jnnp.2009.173823. PMID: 19864656

Prognosis

Mariampillai K, Granger B, Amelin D, Guiguet M, Hachulla E, Maurier F, Meyer A, Tohmé A, Charuel JL, Musset L, Allenbach Y, Benveniste O
JAMA Neurol 2018 Dec 1;75(12):1528-1537. doi: 10.1001/jamaneurol.2018.2598. PMID: 30208379Free PMC Article
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688
Amato AA, Barohn RJ
J Neurol Neurosurg Psychiatry 2009 Nov;80(11):1186-93. doi: 10.1136/jnnp.2009.173823. PMID: 19864656
Dupuis CS, Westra SJ, Makris J, Wallace EC
Radiographics 2009 May-Jun;29(3):877-86. doi: 10.1148/rg.293085163. PMID: 19448122
Ferretti A, Ippolito E, Mariani P, Puddu G
Am J Sports Med 1983 Mar-Apr;11(2):58-62. doi: 10.1177/036354658301100202. PMID: 6846682

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
Horga LM, Hirschmann AC, Henckel J, Fotiadou A, Di Laura A, Torlasco C, D'Silva A, Sharma S, Moon JC, Hart AJ
Skeletal Radiol 2020 Jul;49(7):1099-1107. Epub 2020 Feb 14 doi: 10.1007/s00256-020-03394-z. PMID: 32060622Free PMC Article
Mariampillai K, Granger B, Amelin D, Guiguet M, Hachulla E, Maurier F, Meyer A, Tohmé A, Charuel JL, Musset L, Allenbach Y, Benveniste O
JAMA Neurol 2018 Dec 1;75(12):1528-1537. doi: 10.1001/jamaneurol.2018.2598. PMID: 30208379Free PMC Article
Werner S
Knee Surg Sports Traumatol Arthrosc 2014 Oct;22(10):2286-94. Epub 2014 Jul 6 doi: 10.1007/s00167-014-3150-y. PMID: 24997734
Ferretti A, Ippolito E, Mariani P, Puddu G
Am J Sports Med 1983 Mar-Apr;11(2):58-62. doi: 10.1177/036354658301100202. PMID: 6846682

Recent systematic reviews

Matthews W, Ellis R, Furness J, Hing W
Ultrasound Med Biol 2018 Oct;44(10):2059-2080. Epub 2018 Jul 12 doi: 10.1016/j.ultrasmedbio.2018.05.022. PMID: 30007477

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