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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

Bomfim Gomes Campos S, Sanuelly da Paz Martins A, Karolyne Dos Santos A, Goulart MOF, Andréa Moura F
Nutr Hosp 2021 Oct 13;38(5):1034-1039. doi: 10.20960/nh.03696. PMID: 34165318
Martire MV, Collado P
J Clin Rheumatol 2021 Sep 1;27(6S):S322-S326. doi: 10.1097/RHU.0000000000001622. PMID: 33264248
DeSimone LJ, Sanchez-Sotelo J
Orthop Clin North Am 2013 Jul;44(3):381-7, ix-x. Epub 2013 May 4 doi: 10.1016/j.ocl.2013.03.009. PMID: 23827840
Mascarenhas MR, Zemel B, Stallings VA
Nutrition 1998 Jan;14(1):105-15. doi: 10.1016/s0899-9007(97)00226-8. PMID: 9437695
Dietz WH
J Am Coll Nutr 1989;8 Suppl:13S-21S. doi: 10.1080/07315724.1989.10737966. PMID: 2681326

Diagnosis

Bomfim Gomes Campos S, Sanuelly da Paz Martins A, Karolyne Dos Santos A, Goulart MOF, Andréa Moura F
Nutr Hosp 2021 Oct 13;38(5):1034-1039. doi: 10.20960/nh.03696. PMID: 34165318
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

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
Padmapriyadarsini C, Swaminathan S, Karthipriya MJ, Narendran G, Menon PA, Thomas BE
J Assoc Physicians India 2010 Jun;58:375-7. PMID: 21125779
Canepa A, Perfumo F, Carrea A, Menoni S, Trivelli A, Delucchi P, Gusmano R
Perit Dial Int 1996;16 Suppl 1:S526-31. PMID: 8728263
Lundberg AC, Akesson A, Akesson B
Ann Rheum Dis 1992 Oct;51(10):1143-8. doi: 10.1136/ard.51.10.1143. PMID: 1332633Free PMC Article
McLellan DL
J Neurol Neurosurg Psychiatry 1973 Jun;36(3):342-9. doi: 10.1136/jnnp.36.3.342. PMID: 4268363Free PMC Article

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
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
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
Bhadu D, Das SK, Wakhlu A, Dhakad U, Sharma M
Int J Rheum Dis 2018 Feb;21(2):523-531. Epub 2017 Dec 5 doi: 10.1111/1756-185X.13235. PMID: 29210196

Clinical prediction guides

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
Lisiński P, Huber J
Spine (Phila Pa 1976) 2017 Feb;42(3):151-159. doi: 10.1097/BRS.0000000000001691. PMID: 27196021
Prabhu LV, Asif M, Murlimanju BV, Anup Rao K, Shivaprakash S
Clin Ter 2012;163(2):123-4. PMID: 22555826
Canepa A, Perfumo F, Carrea A, Menoni S, Trivelli A, Delucchi P, Gusmano R
Perit Dial Int 1996;16 Suppl 1:S526-31. PMID: 8728263

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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