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Abnormal metaphysis morphology

MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
Synonym: Abnormality of the metaphysis
 
HPO: HP:0000944

Definition

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal metaphysis morphology

Conditions with this feature

Hoxha-Aliu syndrome
MedGen UID:
1846017
Concept ID:
C5882736
Disease or Syndrome
Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023). Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663).

Recent clinical studies

Therapy

Hosseinzadeh S, Novais EN, Emami A, Portilla G, Maranho DA, Kim YJ, Kiapour AM
Clin Orthop Relat Res 2021 May 1;479(5):922-931. doi: 10.1097/CORR.0000000000001602. PMID: 33337602Free PMC Article
Sato D, Takahata M, Ota M, Fukuda C, Hasegawa T, Yamamoto T, Amizuka N, Tsuda E, Okada A, Hiruma Y, Fujita R, Iwasaki N
Bone 2020 Jun;135:115331. Epub 2020 Mar 23 doi: 10.1016/j.bone.2020.115331. PMID: 32217159
Suo H, Fu L, Wang Z, Liang H, Xu Z, Feng W
Medicine (Baltimore) 2020 Jan;99(4):e18807. doi: 10.1097/MD.0000000000018807. PMID: 31977874Free PMC Article
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Richards PJ, McCall IW, Day C, Belcher J, Maffulli N
Skeletal Radiol 2010 Jun;39(6):509-21. Epub 2009 Aug 27 doi: 10.1007/s00256-009-0772-0. PMID: 19711073

Prognosis

Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Hosseinzadeh S, Novais EN, Emami A, Portilla G, Maranho DA, Kim YJ, Kiapour AM
Clin Orthop Relat Res 2021 May 1;479(5):922-931. doi: 10.1097/CORR.0000000000001602. PMID: 33337602Free PMC Article
Suo H, Fu L, Wang Z, Liang H, Xu Z, Feng W
Medicine (Baltimore) 2020 Jan;99(4):e18807. doi: 10.1097/MD.0000000000018807. PMID: 31977874Free PMC Article
Acikgoz G, Averill LW
Nucl Med Commun 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. PMID: 24736329
Taylor C, Brady P, O'Meara A, Moore D, Dowling F, Fogarty E
J Pediatr Orthop 2008 Mar;28(2):163-8. doi: 10.1097/BPO.0b013e3181649e25. PMID: 18388709

Clinical prediction guides

Xiong G, Zheng W, Gong LH
Curr Med Sci 2024 Aug;44(4):735-740. Epub 2024 Jul 19 doi: 10.1007/s11596-024-2905-z. PMID: 39028414
Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free PMC Article
Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Shi DP, Zhu SC, Li Y, Zheng J
Clin Imaging 2009 Sep-Oct;33(5):379-83. doi: 10.1016/j.clinimag.2008.11.030. PMID: 19712819
Powers JA, Bach PJ
South Med J 1977 Nov;70(11):1297-9. doi: 10.1097/00007611-197711000-00014. PMID: 918696

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