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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).
See: Condition Record
Hoxha-Aliu syndrome

Recent clinical studies

Etiology

Does the Clinical Presentation of Secondary Osteosarcoma in Patients Who Survive Retinoblastoma Differ From That of Conventional Osteosarcoma and How Do We Detect Them?
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
Imaging of Pediatric Growth Plate Disturbances.
Nguyen JC, Markhardt BK, Merrow AC, Dwek JR
Radiographics 2017 Oct;37(6):1791-1812. doi: 10.1148/rg.2017170029. PMID: 29019753
Shwachman-Diamond syndrome.
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
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS
Am J Med Genet A 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. PMID: 19444897Free PMC Article
Mobility in Hurler syndrome.
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

Diagnosis

Does the Clinical Presentation of Secondary Osteosarcoma in Patients Who Survive Retinoblastoma Differ From That of Conventional Osteosarcoma and How Do We Detect Them?
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
Imaging of physeal bars in children.
Wang DC, Deeney V, Roach JW, Shah AJ
Pediatr Radiol 2015 Aug;45(9):1403-12. Epub 2015 Mar 19 doi: 10.1007/s00247-015-3280-5. PMID: 25786604
Chronic recurrent multifocal osteomyelitis: typical patterns of bone involvement in whole-body bone scintigraphy.
Acikgoz G, Averill LW
Nucl Med Commun 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. PMID: 24736329
MRI of pediatric patients: Part 2, normal variants and abnormalities of the knee.
Thapa MM, Chaturvedi A, Iyer RS, Darling SE, Khanna PC, Ishak G, Chew FS
AJR Am J Roentgenol 2012 May;198(5):W456-65. doi: 10.2214/AJR.10.7317. PMID: 22528927
Infantile coxa vara.
Pavlov H, Goldman AB, Freiberger RH
Radiology 1980 Jun;135(3):631-40. doi: 10.1148/radiology.135.3.7384448. PMID: 7384448

Therapy

Does the Capital Femoral Physis Bony MorphologyDiffer in Children with Symptomatic Cam-type Femoroacetabular Impingement.
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
Siglec-15-targeting therapy protects against glucocorticoid-induced osteoporosis of growing skeleton in juvenile rats.
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
Primary lymphoma of the tibia in children: Two case reports.
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
Shwachman-Diamond syndrome.
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
Longitudinal microvascularity in Achilles tendinopathy (power Doppler ultrasound, magnetic resonance imaging time-intensity curves and the Victorian Institute of Sport Assessment-Achilles questionnaire): a pilot study.
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

Imaging Review of Normal and Abnormal Skeletal Maturation.
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
Does the Capital Femoral Physis Bony MorphologyDiffer in Children with Symptomatic Cam-type Femoroacetabular Impingement.
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
Primary lymphoma of the tibia in children: Two case reports.
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
Chronic recurrent multifocal osteomyelitis: typical patterns of bone involvement in whole-body bone scintigraphy.
Acikgoz G, Averill LW
Nucl Med Commun 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. PMID: 24736329
Mobility in Hurler syndrome.
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

Role of Vickers Ligament in the Pathogenesis of Madelung Deformity.
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
Does the Clinical Presentation of Secondary Osteosarcoma in Patients Who Survive Retinoblastoma Differ From That of Conventional Osteosarcoma and How Do We Detect Them?
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
Imaging Review of Normal and Abnormal Skeletal Maturation.
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
Epiphyseal and physeal injury: comparison of conventional radiography and magnetic resonance imaging.
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
Coxa magna.
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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