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Abnormality of the shoulder girdle musculature

MedGen UID:
867408
Concept ID:
C4021778
Anatomical Abnormality
Synonym: Abnormality of shoulder musculature
 
HPO: HP:0001435

Conditions with this feature

Congenitally short costocoracoid ligament
MedGen UID:
342257
Concept ID:
C1852523
Congenital Abnormality
A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities.

Professional guidelines

PubMed

Nielsen PE, Kirchner PT, Gerber FH
J Nucl Med 1977 Oct;18(10):967-72. PMID: 903480

Recent clinical studies

Etiology

El-Battrawy I, Zhao Z, Lan H, Li X, Yücel G, Lang S, Sattler K, Schünemann JD, Zimmermann WH, Cyganek L, Utikal J, Wieland T, Bieback K, Bauer R, Ratte A, Pribe-Wolferts R, Rapti K, Nowak D, Wittig J, Thomas D, Most P, Katus HA, Ravens U, Schmidt C, Borggrefe M, Zhou XB, Müller OJ, Akin I
Circ Genom Precis Med 2018 Mar;11(3):e001893. doi: 10.1161/CIRCGEN.117.001893. PMID: 29545480
Emmel M, Ulbach P, Herse B, Dalichau H, Haupt WF, Schumann D, Mennicken U
Thorac Cardiovasc Surg 1996 Apr;44(2):86-91. doi: 10.1055/s-2007-1011992. PMID: 8782334
Shelton JE, Julian R, Walburgh E, Schneider E
J Pediatr Surg 1986 Oct;21(10):855-7. doi: 10.1016/s0022-3468(86)80007-0. PMID: 3783370

Diagnosis

El-Battrawy I, Zhao Z, Lan H, Li X, Yücel G, Lang S, Sattler K, Schünemann JD, Zimmermann WH, Cyganek L, Utikal J, Wieland T, Bieback K, Bauer R, Ratte A, Pribe-Wolferts R, Rapti K, Nowak D, Wittig J, Thomas D, Most P, Katus HA, Ravens U, Schmidt C, Borggrefe M, Zhou XB, Müller OJ, Akin I
Circ Genom Precis Med 2018 Mar;11(3):e001893. doi: 10.1161/CIRCGEN.117.001893. PMID: 29545480
Nguyen BD
Clin Nucl Med 2007 Aug;32(8):643-5. doi: 10.1097/RLU.0b013e3180a1acb0. PMID: 17667442
Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, Hartung HP
Muscle Nerve 2000 Aug;23(8):1243-9. doi: 10.1002/1097-4598(200008)23:8<1243::aid-mus13>3.0.co;2-z. PMID: 10918262
Emmel M, Ulbach P, Herse B, Dalichau H, Haupt WF, Schumann D, Mennicken U
Thorac Cardiovasc Surg 1996 Apr;44(2):86-91. doi: 10.1055/s-2007-1011992. PMID: 8782334
Samilson RL
Orthop Clin North Am 1980 Apr;11(2):219-31. PMID: 7001305

Therapy

Emmel M, Ulbach P, Herse B, Dalichau H, Haupt WF, Schumann D, Mennicken U
Thorac Cardiovasc Surg 1996 Apr;44(2):86-91. doi: 10.1055/s-2007-1011992. PMID: 8782334

Prognosis

Emmel M, Ulbach P, Herse B, Dalichau H, Haupt WF, Schumann D, Mennicken U
Thorac Cardiovasc Surg 1996 Apr;44(2):86-91. doi: 10.1055/s-2007-1011992. PMID: 8782334

Clinical prediction guides

Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, Hartung HP
Muscle Nerve 2000 Aug;23(8):1243-9. doi: 10.1002/1097-4598(200008)23:8<1243::aid-mus13>3.0.co;2-z. PMID: 10918262
Shelton JE, Julian R, Walburgh E, Schneider E
J Pediatr Surg 1986 Oct;21(10):855-7. doi: 10.1016/s0022-3468(86)80007-0. PMID: 3783370

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