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Neck muscle hypoplasia

MedGen UID:
369906
Concept ID:
C1969000
Finding
Synonyms: Decreased size of neck muscle; Deficiency of neck muscle; Hypotrophic neck muscle; Small neck muscle; Underdevelopment of neck muscle
 
HPO: HP:0008984

Definition

Underdevelopment of muscles of the neck. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeck muscle hypoplasia

Conditions with this feature

Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).

Professional guidelines

PubMed

Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010029. PMID: 38254920Free PMC Article
Richter GT, Braswell L
Facial Plast Surg 2012 Dec;28(6):603-10. Epub 2012 Nov 27 doi: 10.1055/s-0032-1329935. PMID: 23188688
Brennan HG, Koch RJ
Facial Plast Surg 1996 Jul;12(3):241-55. doi: 10.1055/s-0028-1082415. PMID: 9243993

Recent clinical studies

Etiology

Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D
Hum Genet 2024 Jan;143(1):71-84. Epub 2023 Dec 20 doi: 10.1007/s00439-023-02622-5. PMID: 38117302
Abd El-Azeim AS, Mahmoud AG, Mohamed MT, El-Khateeb YS
Eur J Phys Rehabil Med 2022 Oct;58(5):757-766. Epub 2022 Jun 8 doi: 10.23736/S1973-9087.22.07361-0. PMID: 35673945Free PMC Article
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Shin W, Jen R, Li Y, Malhotra A
Respir Investig 2016 Jan;54(1):2-7. Epub 2015 Dec 8 doi: 10.1016/j.resinv.2015.09.007. PMID: 26718138Free PMC Article
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850

Diagnosis

Panther EJ, Reintgen CD, Cueto RJ, Hao KA, Chim H, King JJ
J Shoulder Elbow Surg 2022 Nov;31(11):e545-e561. Epub 2022 Aug 10 doi: 10.1016/j.jse.2022.06.026. PMID: 35963513
Chiou-Tan FY
Muscle Nerve 2022 Jul;66(1):6-14. Epub 2022 Apr 24 doi: 10.1002/mus.27553. PMID: 35466429
Chari DA, Limb CJ
Med Clin North Am 2018 Nov;102(6):1081-1093. doi: 10.1016/j.mcna.2018.06.014. PMID: 30342610
Lomas J, Gurgenci T, Jackson C, Campbell D
Aust J Gen Pract 2018 Apr;47(4):212-215. doi: 10.31128/AFP-10-17-4375. PMID: 29621862
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850

Therapy

Morse E, Pereira N, Liu K, Veler H, Maresh A
Int J Pediatr Otorhinolaryngol 2023 May;168:111558. Epub 2023 Apr 15 doi: 10.1016/j.ijporl.2023.111558. PMID: 37075592
Abd El-Azeim AS, Mahmoud AG, Mohamed MT, El-Khateeb YS
Eur J Phys Rehabil Med 2022 Oct;58(5):757-766. Epub 2022 Jun 8 doi: 10.23736/S1973-9087.22.07361-0. PMID: 35673945Free PMC Article
Peterson JD, Goyal V, Puricelli MD, Thatcher A, Smith RJ
Ann Otol Rhinol Laryngol 2021 Mar;130(3):311-313. Epub 2020 Aug 8 doi: 10.1177/0003489420948546. PMID: 32772542
O'Rourke A, Humphries K, Lazar A, Martin-Harris B
Neurogastroenterol Motil 2017 Dec;29(12) Epub 2017 Jul 11 doi: 10.1111/nmo.13144. PMID: 28699250Free PMC Article
Brennan HG, Koch RJ
Facial Plast Surg 1996 Jul;12(3):241-55. doi: 10.1055/s-0028-1082415. PMID: 9243993

Prognosis

Reuter MS, Zech M, Hempel M, Altmüller J, Heung T, Pölsler L, Santer R, Thiele H, Trost B, Kubisch C, Scherer SW, Rudnik-Schöneborn S, Bassett AS, Lessel D
Eur J Hum Genet 2022 May;30(5):611-618. Epub 2022 Mar 18 doi: 10.1038/s41431-022-01077-y. PMID: 35304602Free PMC Article
Mohtisham FS, Sallam A, Shawli A
BMJ Case Rep 2019 May 8;12(5) doi: 10.1136/bcr-2018-229045. PMID: 31068350Free PMC Article
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Sobel RK, Allen RC
Ophthalmic Plast Reconstr Surg 2014 May-Jun;30(3):e54-5. doi: 10.1097/IOP.0b013e31829bb405. PMID: 23880977
Saoud B, Allali F, Hassouni NH
Joint Bone Spine 2006 May;73(3):318-20. Epub 2005 Sep 16 doi: 10.1016/j.jbspin.2005.05.004. PMID: 16253536

Clinical prediction guides

Paraskevas G, Koutsouflianiotis K, Chrysanthou C, Iliou K, Syrmos N, Salmas M
Acta Medica (Hradec Kralove) 2021;64(2):129-131. doi: 10.14712/18059694.2021.22. PMID: 34331434
Rani A, Chopra J, Rani A, Verma RK
Singapore Med J 2013 Jun;54(6):e131-2. doi: 10.11622/smedj.2013117. PMID: 23712787
Dòmini M, Cupaioli M, Rossi F, Fakhro A, Aquino A, Chiesa PL
Ann Thorac Surg 2000 Jan;69(1):267-9. doi: 10.1016/s0003-4975(99)01206-0. PMID: 10654531
Abbruzzese G, Morena M, Caponnetto C, Trompetto C, Abbruzzese M, Favale E
J Neurol 1993 Dec;241(2):63-7. doi: 10.1007/BF00869765. PMID: 8138827
Diamond SG, Markham CH, Baloh RW
Arch Neurol 1988 Feb;45(2):164-9. doi: 10.1001/archneur.1988.00520260050019. PMID: 3341930

Recent systematic reviews

Garg RK, Rizvi I, Nigam H, Pandey S, Uniyal R
Future Microbiol 2025 Jan;20(1):45-56. Epub 2024 Nov 15 doi: 10.1080/17460913.2024.2428526. PMID: 39545648Free PMC Article
Price A, Fredricks N, Truong N, North RY
J Neurosurg Pediatr 2024 May 1;33(5):484-495. Epub 2024 Mar 1 doi: 10.3171/2024.2.PEDS23511. PMID: 38428008
Lisan Q, Rubin F, Werner A, Guiquerro S, Bonfils P, Laccourreye O
Eur Ann Otorhinolaryngol Head Neck Dis 2019 Sep;136(4):281-287. Epub 2019 May 21 doi: 10.1016/j.anorl.2019.05.002. PMID: 31126893
Utomo E, Groen J, Blok BF
Cochrane Database Syst Rev 2014 May 24;2014(5):CD004927. doi: 10.1002/14651858.CD004927.pub4. PMID: 24859260Free PMC Article
Karkos PD, Benton J, Leong SC, Mushi E, Sivaji N, Assimakopoulos DA
Int J Pediatr Otorhinolaryngol 2007 Dec;71(12):1823-7. Epub 2007 Aug 13 doi: 10.1016/j.ijporl.2007.07.002. PMID: 17706297

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