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Abnormal appendicular skeleton morphology

MedGen UID:
868758
Concept ID:
C4023163
Anatomical Abnormality
HPO: HP:0011844

Definition

An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal appendicular skeleton morphology

Professional guidelines

PubMed

Sato M, Vahle J, Schmidt A, Westmore M, Smith S, Rowley E, Ma LY
Endocrinology 2002 Sep;143(9):3230-42. doi: 10.1210/en.2002-220149. PMID: 12193534

Recent clinical studies

Etiology

Thomas JR, Roper RJ
Curr Osteoporos Rep 2021 Jun;19(3):338-346. Epub 2021 Apr 8 doi: 10.1007/s11914-021-00674-y. PMID: 33830429Free PMC Article
Ben Hassine I, Rein C, Comarmond C, Glanowski C, Saidenberg-Kermanac'h N, Meunier B, Schleinitz N, Chanson N, Sacré K, Scherlinger M, Richez C, Hirschi S, Groh M, Devilliers H, Bielefeld P, Saadoun D, Chapelon-Abric C, Arnaud L, Cacoub P
Joint Bone Spine 2019 Nov;86(6):789-793. Epub 2019 Jul 30 doi: 10.1016/j.jbspin.2019.07.009. PMID: 31374357
Burnham JM
Curr Opin Rheumatol 2012 Sep;24(5):548-53. doi: 10.1097/BOR.0b013e328356b0c2. PMID: 22832825
Gorman KF, Breden F
Comp Biochem Physiol C Toxicol Pharmacol 2007 Feb;145(1):28-38. Epub 2006 Oct 19 doi: 10.1016/j.cbpc.2006.10.004. PMID: 17240199
Edwards MJ
Birth Defects Res A Clin Mol Teratol 2006 Jul;76(7):507-16. doi: 10.1002/bdra.20277. PMID: 16933304

Diagnosis

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA
Mol Genet Genomics 2022 Sep;297(5):1195-1214. Epub 2022 Jul 30 doi: 10.1007/s00438-022-01930-1. PMID: 35907958
Surana A, Aggarwal A, Krishnan V, Malik A, Misra RN
World Neurosurg 2020 Jul;139:286-288. Epub 2020 Apr 2 doi: 10.1016/j.wneu.2020.03.156. PMID: 32247796
Ben Hassine I, Rein C, Comarmond C, Glanowski C, Saidenberg-Kermanac'h N, Meunier B, Schleinitz N, Chanson N, Sacré K, Scherlinger M, Richez C, Hirschi S, Groh M, Devilliers H, Bielefeld P, Saadoun D, Chapelon-Abric C, Arnaud L, Cacoub P
Joint Bone Spine 2019 Nov;86(6):789-793. Epub 2019 Jul 30 doi: 10.1016/j.jbspin.2019.07.009. PMID: 31374357
Kotwal A, Clarke BL
Curr Osteoporos Rep 2017 Aug;15(4):335-342. doi: 10.1007/s11914-017-0375-y. PMID: 28676968
Eshed I, Bollow M, McGonagle DG, Tan AL, Althoff CE, Asbach P, Hermann KG
Ann Rheum Dis 2007 Dec;66(12):1553-9. Epub 2007 May 25 doi: 10.1136/ard.2007.070243. PMID: 17526551Free PMC Article

Therapy

Ben Hassine I, Rein C, Comarmond C, Glanowski C, Saidenberg-Kermanac'h N, Meunier B, Schleinitz N, Chanson N, Sacré K, Scherlinger M, Richez C, Hirschi S, Groh M, Devilliers H, Bielefeld P, Saadoun D, Chapelon-Abric C, Arnaud L, Cacoub P
Joint Bone Spine 2019 Nov;86(6):789-793. Epub 2019 Jul 30 doi: 10.1016/j.jbspin.2019.07.009. PMID: 31374357
Matsue K, Kobayashi H, Matsue Y, Abe Y, Narita K, Kitadate A, Takeuchi M
Blood Adv 2018 May 8;2(9):1032-1039. doi: 10.1182/bloodadvances.2017014720. PMID: 29739774Free PMC Article
Burnham JM
Curr Opin Rheumatol 2012 Sep;24(5):548-53. doi: 10.1097/BOR.0b013e328356b0c2. PMID: 22832825
Edouard T, Deal C, Van Vliet G, Gaulin N, Moreau A, Rauch F, Alos N
J Clin Endocrinol Metab 2012 Feb;97(2):E275-81. Epub 2011 Dec 7 doi: 10.1210/jc.2011-2406. PMID: 22162467
Opitz JM, Utkus A
Am J Med Genet 2001 Jul 15;101(4):359-69. PMID: 11471160

Prognosis

Ben Hassine I, Rein C, Comarmond C, Glanowski C, Saidenberg-Kermanac'h N, Meunier B, Schleinitz N, Chanson N, Sacré K, Scherlinger M, Richez C, Hirschi S, Groh M, Devilliers H, Bielefeld P, Saadoun D, Chapelon-Abric C, Arnaud L, Cacoub P
Joint Bone Spine 2019 Nov;86(6):789-793. Epub 2019 Jul 30 doi: 10.1016/j.jbspin.2019.07.009. PMID: 31374357
Matsue K, Kobayashi H, Matsue Y, Abe Y, Narita K, Kitadate A, Takeuchi M
Blood Adv 2018 May 8;2(9):1032-1039. doi: 10.1182/bloodadvances.2017014720. PMID: 29739774Free PMC Article
Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG
Medicine (Baltimore) 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505. PMID: 27977582Free PMC Article
Nishida Y, Matsue Y, Suehara Y, Fukumoto K, Fujisawa M, Takeuchi M, Ouchi E, Matsue K
Blood Cancer J 2015 Jul 31;5(7):e329. doi: 10.1038/bcj.2015.57. PMID: 26230953Free PMC Article
Diogo R, Walsh S, Smith C, Ziermann JM, Abdala V
J Anat 2015 Jun;226(6):523-9. Epub 2015 Apr 7 doi: 10.1111/joa.12301. PMID: 25851747Free PMC Article

Clinical prediction guides

Shkil F, Siomava N, Voronezhskaya E, Diogo R
Sci Rep 2019 Apr 1;9(1):5413. doi: 10.1038/s41598-019-41912-9. PMID: 30931985Free PMC Article
Matsue K, Kobayashi H, Matsue Y, Abe Y, Narita K, Kitadate A, Takeuchi M
Blood Adv 2018 May 8;2(9):1032-1039. doi: 10.1182/bloodadvances.2017014720. PMID: 29739774Free PMC Article
Nishida Y, Matsue Y, Suehara Y, Fukumoto K, Fujisawa M, Takeuchi M, Ouchi E, Matsue K
Blood Cancer J 2015 Jul 31;5(7):e329. doi: 10.1038/bcj.2015.57. PMID: 26230953Free PMC Article
Diogo R, Walsh S, Smith C, Ziermann JM, Abdala V
J Anat 2015 Jun;226(6):523-9. Epub 2015 Apr 7 doi: 10.1111/joa.12301. PMID: 25851747Free PMC Article
Gorman KF, Breden F
Comp Biochem Physiol C Toxicol Pharmacol 2007 Feb;145(1):28-38. Epub 2006 Oct 19 doi: 10.1016/j.cbpc.2006.10.004. PMID: 17240199

Recent systematic reviews

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA
Mol Genet Genomics 2022 Sep;297(5):1195-1214. Epub 2022 Jul 30 doi: 10.1007/s00438-022-01930-1. PMID: 35907958

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