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Hypoplasia of deltoid muscle

MedGen UID:
357440
Concept ID:
C1868170
Finding
Synonym: Deltoid muscle hypoplasia
 
HPO: HP:0030241

Definition

Underdevelopment of the deltoid muscle. [from HPO]

Term Hierarchy

Conditions with this feature

Poland anomaly
MedGen UID:
10822
Concept ID:
C0032357
Disease or Syndrome
Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.
Oculootoradial syndrome
MedGen UID:
233003
Concept ID:
C1327918
Disease or Syndrome
IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).

Recent clinical studies

Etiology

van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC
J Neuromuscul Dis 2023;10(4):541-554. doi: 10.3233/JND-230018. PMID: 37154182Free PMC Article
Silsby M, Fois AF, Yiannikas C, Ng K, Kiernan MC, Fung VSC, Vucic S
Eur J Neurol 2023 Apr;30(4):1059-1068. Epub 2023 Feb 12 doi: 10.1111/ene.15693. PMID: 36692234
Büyükkuşcu MÖ, Kulduk A, Mısır A, Çetinkaya E, Çamurcu İY, Gürsu ŞS
Jt Dis Relat Surg 2020;31(3):515-522. doi: 10.5606/ehc.2020.74218. PMID: 32962584Free PMC Article
Sawada K, Horii M, Imoto D, Ozaki K, Toyama S, Saitoh E, Mikami Y, Kubo T
PM R 2020 Jul;12(7):692-698. Epub 2020 Jan 16 doi: 10.1002/pmrj.12281. PMID: 31702870
Sleigh K, Ball S, Hilton DA
Muscle Nerve 2011 Jun;43(6):795-800. doi: 10.1002/mus.21962. PMID: 21607963

Diagnosis

van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC
J Neuromuscul Dis 2023;10(4):541-554. doi: 10.3233/JND-230018. PMID: 37154182Free PMC Article
Silsby M, Fois AF, Yiannikas C, Ng K, Kiernan MC, Fung VSC, Vucic S
Eur J Neurol 2023 Apr;30(4):1059-1068. Epub 2023 Feb 12 doi: 10.1111/ene.15693. PMID: 36692234
Sawada K, Horii M, Imoto D, Ozaki K, Toyama S, Saitoh E, Mikami Y, Kubo T
PM R 2020 Jul;12(7):692-698. Epub 2020 Jan 16 doi: 10.1002/pmrj.12281. PMID: 31702870
Moser T, Lecours J, Michaud J, Bureau NJ, Guillin R, Cardinal É
Skeletal Radiol 2013 Oct;42(10):1361-75. Epub 2013 Jun 20 doi: 10.1007/s00256-013-1667-7. PMID: 23784480
Sleigh K, Ball S, Hilton DA
Muscle Nerve 2011 Jun;43(6):795-800. doi: 10.1002/mus.21962. PMID: 21607963

Therapy

Absalon J, Segall N, Block SL, Center KJ, Scully IL, Giardina PC, Peterson J, Watson WJ, Gruber WC, Jansen KU, Peng Y, Munson S, Pavliakova D, Scott DA, Anderson AS
Lancet Infect Dis 2021 Feb;21(2):263-274. Epub 2020 Sep 3 doi: 10.1016/S1473-3099(20)30478-3. PMID: 32891191Free PMC Article
Büyükkuşcu MÖ, Kulduk A, Mısır A, Çetinkaya E, Çamurcu İY, Gürsu ŞS
Jt Dis Relat Surg 2020;31(3):515-522. doi: 10.5606/ehc.2020.74218. PMID: 32962584Free PMC Article
von Reyn CF, Lahey T, Arbeit RD, Landry B, Kailani L, Adams LV, Haynes BC, Mackenzie T, Wieland-Alter W, Connor RI, Tvaroha S, Hokey DA, Ginsberg AM, Waddell R
PLoS One 2017;12(5):e0175215. Epub 2017 May 12 doi: 10.1371/journal.pone.0175215. PMID: 28498853Free PMC Article
Jayasinghe SS, Pathirana KD, Buckley NA
PLoS One 2012;7(11):e49405. Epub 2012 Nov 20 doi: 10.1371/journal.pone.0049405. PMID: 23185328Free PMC Article
Campbell PT, Nizlan NM, Skirving AP
Orthopedics 2012 Nov;35(11):e1601-5. doi: 10.3928/01477447-20121023-16. PMID: 23127450

Prognosis

Chiang PI, Chen CM
BMC Neurol 2023 Jul 26;23(1):280. doi: 10.1186/s12883-023-03328-x. PMID: 37495981Free PMC Article
Sawada K, Horii M, Imoto D, Ozaki K, Toyama S, Saitoh E, Mikami Y, Kubo T
PM R 2020 Jul;12(7):692-698. Epub 2020 Jan 16 doi: 10.1002/pmrj.12281. PMID: 31702870
Haddas R, Cox J, Belanger T, Ju KL, Derman PB
Spine J 2019 Nov;19(11):1803-1808. Epub 2019 Jun 15 doi: 10.1016/j.spinee.2019.06.005. PMID: 31207317
Ogawa K, Yoshida A, Inokuchi W
J Shoulder Elbow Surg 1999 Jan-Feb;8(1):22-5. doi: 10.1016/s1058-2746(99)90049-6. PMID: 10077791
Ozan H, Atasever A, Sinav A, Simsek C, Basar R
Kaibogaku Zasshi 1997 Dec;72(6):515-9. PMID: 9465553

Clinical prediction guides

van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC
J Neuromuscul Dis 2023;10(4):541-554. doi: 10.3233/JND-230018. PMID: 37154182Free PMC Article
Büyükkuşcu MÖ, Kulduk A, Mısır A, Çetinkaya E, Çamurcu İY, Gürsu ŞS
Jt Dis Relat Surg 2020;31(3):515-522. doi: 10.5606/ehc.2020.74218. PMID: 32962584Free PMC Article
Sawada K, Horii M, Imoto D, Ozaki K, Toyama S, Saitoh E, Mikami Y, Kubo T
PM R 2020 Jul;12(7):692-698. Epub 2020 Jan 16 doi: 10.1002/pmrj.12281. PMID: 31702870
Sun XS, Liu WX, Chen ZH, Ling L, Yang F, Wang HF, Cui F, Huang XS
Chin Med J (Engl) 2018 Sep 20;131(18):2146-2151. doi: 10.4103/0366-6999.240798. PMID: 30203787Free PMC Article
Campbell PT, Nizlan NM, Skirving AP
Orthopedics 2012 Nov;35(11):e1601-5. doi: 10.3928/01477447-20121023-16. PMID: 23127450

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