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Aplasia of the musculature

MedGen UID:
867571
Concept ID:
C4021955
Finding
Synonym: Absent musculature
 
HPO: HP:0100854

Definition

Absence of the musculature. [from HPO]

Professional guidelines

PubMed

Bonini M, Fiorenzano G
Eur Respir Rev 2017 Jan;26(143) Epub 2017 Feb 21 doi: 10.1183/16000617.0099-2016. PMID: 28223398Free PMC Article
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Kezirian EJ, Boudewyns A, Eisele DW, Schwartz AR, Smith PL, Van de Heyning PH, De Backer WA
Sleep Med Rev 2010 Oct;14(5):299-305. Epub 2010 Jan 29 doi: 10.1016/j.smrv.2009.10.009. PMID: 20116305

Recent clinical studies

Etiology

Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
Lakhoo J, Khatri G, Elsayed RF, Chernyak V, Olpin J, Steiner A, Tammisetti VS, Sundaram KM, Arora SS
Radiographics 2019 Nov-Dec;39(7):2003-2022. doi: 10.1148/rg.2019190064. PMID: 31697623
Deflandre E, Gerdom A, Lamarque C, Bertrand B
Obes Surg 2018 Aug;28(8):2560-2571. doi: 10.1007/s11695-018-3325-6. PMID: 29948871
Wijdicks EFM
Ann Neurol 2017 Apr;81(4):485-494. doi: 10.1002/ana.24908. PMID: 28253561
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556

Diagnosis

Gouveia de Melo ACM, van der Linden V, Serpa SC, Rolim Filho EL, Lins OG
J Clin Neurophysiol 2023 May 1;40(4):350-354. Epub 2021 Sep 6 doi: 10.1097/WNP.0000000000000893. PMID: 34510092
Wijdicks EFM
Ann Neurol 2017 Apr;81(4):485-494. doi: 10.1002/ana.24908. PMID: 28253561
Jacobson JA, Khoury V, Brandon CJ
AJR Am J Roentgenol 2015 Sep;205(3):513-23. Epub 2015 Jun 23 doi: 10.2214/AJR.15.14523. PMID: 26102306
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Richter JE
Lancet 2001 Sep 8;358(9284):823-8. doi: 10.1016/S0140-6736(01)05973-6. PMID: 11564508

Therapy

Gouveia de Melo ACM, van der Linden V, Serpa SC, Rolim Filho EL, Lins OG
J Clin Neurophysiol 2023 May 1;40(4):350-354. Epub 2021 Sep 6 doi: 10.1097/WNP.0000000000000893. PMID: 34510092
Samango-Sprouse C
Pediatr Endocrinol Rev 2010 Dec;8 Suppl 1:160-8. PMID: 21217608
Greene ND, Massa V, Copp AJ
Birth Defects Res A Clin Mol Teratol 2009 Apr;85(4):322-30. doi: 10.1002/bdra.20539. PMID: 19180568
Saltzman MB, McCallum RW
Yale J Biol Med 1983 May-Jun;56(3):179-87. PMID: 6659560Free PMC Article
Sethbhakdi S
Postgrad Med 1976 Dec;60(6):76-81. doi: 10.1080/00325481.1976.11708406. PMID: 792842

Prognosis

Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
Zweyer M, Sabir H, Dowling P, Gargan S, Murphy S, Swandulla D, Ohlendieck K
Histol Histopathol 2022 Feb;37(2):101-116. Epub 2021 Dec 7 doi: 10.14670/HH-18-403. PMID: 34873679
Lakhoo J, Khatri G, Elsayed RF, Chernyak V, Olpin J, Steiner A, Tammisetti VS, Sundaram KM, Arora SS
Radiographics 2019 Nov-Dec;39(7):2003-2022. doi: 10.1148/rg.2019190064. PMID: 31697623
Strassburg S, Springer J, Anker SD
Int J Biochem Cell Biol 2005 Oct;37(10):1938-47. doi: 10.1016/j.biocel.2005.03.013. PMID: 15927519
FitzGerald MP, Kotarinos R
Int Urogynecol J Pelvic Floor Dysfunct 2003 Oct;14(4):261-8. Epub 2003 Aug 2 doi: 10.1007/s00192-003-1049-0. PMID: 14530839

Clinical prediction guides

Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
Lakhoo J, Khatri G, Elsayed RF, Chernyak V, Olpin J, Steiner A, Tammisetti VS, Sundaram KM, Arora SS
Radiographics 2019 Nov-Dec;39(7):2003-2022. doi: 10.1148/rg.2019190064. PMID: 31697623
Bonini M, Fiorenzano G
Eur Respir Rev 2017 Jan;26(143) Epub 2017 Feb 21 doi: 10.1183/16000617.0099-2016. PMID: 28223398Free PMC Article
Gazulla J, Mayayo-Sinués E, Benavente I, Modrego PJ, Berciano J
Can J Neurol Sci 2014 Jan;41(1):37-41. doi: 10.1017/s0317167100016231. PMID: 24384335
Samango-Sprouse C
Pediatr Endocrinol Rev 2010 Dec;8 Suppl 1:160-8. PMID: 21217608

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