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Triceps aplasia

MedGen UID:
816814
Concept ID:
C3810484
Finding
Synonym: Absent triceps
 
HPO: HP:0009785

Definition

Absence of the triceps 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.

Recent clinical studies

Etiology

Kryst Ł, Żegleń M, Woronkowicz A, Kowal M
Am J Hum Biol 2022 May;34(5):e23696. Epub 2021 Nov 2 doi: 10.1002/ajhb.23696. PMID: 34726810
Martire MV, Collado P
J Clin Rheumatol 2021 Sep 1;27(6S):S322-S326. doi: 10.1097/RHU.0000000000001622. PMID: 33264248
Mascarenhas MR, Zemel B, Stallings VA
Nutrition 1998 Jan;14(1):105-15. doi: 10.1016/s0899-9007(97)00226-8. PMID: 9437695
Sonin AH, Tutton SM, Fitzgerald SW, Peduto AJ
Radiographics 1996 Nov;16(6):1323-36. doi: 10.1148/radiographics.16.6.8946538. PMID: 8946538
Dietz WH
J Am Coll Nutr 1989;8 Suppl:13S-21S. doi: 10.1080/07315724.1989.10737966. PMID: 2681326

Diagnosis

Martire MV, Collado P
J Clin Rheumatol 2021 Sep 1;27(6S):S322-S326. doi: 10.1097/RHU.0000000000001622. PMID: 33264248
Dammak N, Rouhou HC, Khalifa I, Haddad I, Zitoun Y, Abid F
Pan Afr Med J 2020;36:139. Epub 2020 Jun 30 doi: 10.11604/pamj.2020.36.139.23494. PMID: 32849994Free PMC Article
Thornton R, Riley GM, Steinbach LS
Top Magn Reson Imaging 2003 Feb;14(1):69-86. doi: 10.1097/00002142-200302000-00006. PMID: 12606870
Steinbach LS, Fritz RC, Tirman PF, Uffman M
Eur J Radiol 1997 Nov;25(3):223-41. doi: 10.1016/s0720-048x(97)00073-9. PMID: 9430831
Sonin AH, Tutton SM, Fitzgerald SW, Peduto AJ
Radiographics 1996 Nov;16(6):1323-36. doi: 10.1148/radiographics.16.6.8946538. PMID: 8946538

Therapy

Chen LW, Xu J, Soh SE, Aris IM, Tint MT, Gluckman PD, Tan KH, Shek LP, Chong YS, Yap F, Godfrey KM, Gilbert JA, Karnani N, Lee YS
Int J Obes (Lond) 2020 Jul;44(7):1508-1520. Epub 2020 Apr 22 doi: 10.1038/s41366-020-0572-0. PMID: 32321980Free 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
Naredo E, Uson J, Jiménez-Palop M, Martínez A, Vicente E, Brito E, Rodríguez A, Cornejo FJ, Castañeda S, Martínez MJ, Sanz J, Möller I, Batlle-Gualda E, Garrido J, Pascual E
Ann Rheum Dis 2014 Aug;73(8):1522-8. Epub 2013 May 24 doi: 10.1136/annrheumdis-2013-203487. PMID: 23709244
Raney EM, Thielen Z, Gregory S, Sobralske M
J Pediatr Orthop 2012 Apr-May;32(3):232-40. doi: 10.1097/BPO.0b013e3182471d3f. PMID: 22411326
Dempsey DT, Buzby GP, Mullen JL
J Am Coll Nutr 1983;2(1):15-22. doi: 10.1080/07315724.1983.10719905. PMID: 6886242

Prognosis

Gao H, Wang K, Zhao W, Zhuang J, Jiang Y, Zhang L, Liu Q, Ahmadizar F
Front Endocrinol (Lausanne) 2022;13:828403. Epub 2022 Apr 6 doi: 10.3389/fendo.2022.828403. PMID: 35464070Free 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
Ebstein E, Coustet B, Masson-Behar V, Forien M, Palazzo E, Dieudé P, Ottaviani S
Joint Bone Spine 2018 Oct;85(5):577-581. Epub 2017 Dec 9 doi: 10.1016/j.jbspin.2017.11.014. PMID: 29233691
Vogt BP, Ponce D, Caramori JC
Nutr Clin Pract 2016 Jun;31(3):368-74. Epub 2015 Sep 4 doi: 10.1177/0884533615601849. PMID: 26341917
Nellans K, Galdi B, Kim HM, Levine WN
Orthopedics 2014 Aug;37(8):e743-5. doi: 10.3928/01477447-20140728-92. PMID: 25102512

Clinical prediction guides

Ferrer-Sargues FJ, Peiró-Molina E, Cebrià I Iranzo MÀ, Carrasco Moreno JI, Cano-Sánchez A, Vázquez-Arce MI, Insa Albert B, Salvador-Coloma P
Int J Environ Res Public Health 2021 May 30;18(11) doi: 10.3390/ijerph18115870. PMID: 34070726Free PMC Article
Martire MV, Collado P
J Clin Rheumatol 2021 Sep 1;27(6S):S322-S326. doi: 10.1097/RHU.0000000000001622. PMID: 33264248
Ebstein E, Coustet B, Masson-Behar V, Forien M, Palazzo E, Dieudé P, Ottaviani S
Joint Bone Spine 2018 Oct;85(5):577-581. Epub 2017 Dec 9 doi: 10.1016/j.jbspin.2017.11.014. PMID: 29233691
Frank RM, Lenart BA, Cohen MS
J Shoulder Elbow Surg 2017 Jun;26(6):1044-1051. Epub 2017 Jan 27 doi: 10.1016/j.jse.2016.11.036. PMID: 28139383
Prabhu LV, Asif M, Murlimanju BV, Anup Rao K, Shivaprakash S
Clin Ter 2012;163(2):123-4. PMID: 22555826

Recent systematic reviews

Gross R, Degive C, Dernis E, Plat M, Dubourg O, Puéchal X
Semin Arthritis Rheum 2008 Aug;38(1):20-7. Epub 2008 Feb 21 doi: 10.1016/j.semarthrit.2007.09.004. PMID: 18206215

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