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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

Etiology

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
Ibn Yacoub Y, Rostom S, Amine B, Hajjaj-Hassouni N
Clin Rheumatol 2010 Apr;29(4):427-9. doi: 10.1007/s10067-009-1335-4. PMID: 20084444
Land C, Rauch F, Glorieux FH
J Bone Miner Res 2006 Mar;21(3):374-9. Epub 2005 Dec 19 doi: 10.1359/JBMR.051207. PMID: 16491284
Ganesan A, Smith GH, Broome K, Steinberg A
J Urol 2002 Jan;167(1):275-8; discussion 278-9. doi: 10.1016/s0022-5347(05)65448-1. PMID: 11743338
Munns CF, Glass IA, LaBrom R, Hayes M, Flanagan S, Berry M, Hyland VJ, Batch JA, Philips GE, Vickers D
Hand Surg 2001 Jul;6(1):13-23. doi: 10.1142/s0218810401000424. PMID: 11677662

Diagnosis

Booth SM, Kapadia TH, Tang V, Maniyar AF
Pediatr Radiol 2024 Jul;54(8):1247-1260. Epub 2024 Mar 16 doi: 10.1007/s00247-024-05896-7. PMID: 38491225
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
Henry JC, Mouawad NJ, Phieffer L, Go MR
J Vasc Surg 2015 Jun;61(6):1595-8. Epub 2013 Dec 17 doi: 10.1016/j.jvs.2013.10.105. PMID: 24360241
Pinar H, Akseki D, Karaoğlan O, Ozkan M, Uluç E
Arthroscopy 2000 Jan-Feb;16(1):96-101. doi: 10.1016/s0749-8063(00)90135-x. PMID: 10627353
Mégarbané A, Haddad S, Berjaoui L
Am J Perinatol 1998 Jul;15(7):403-7. doi: 10.1055/s-2007-993966. PMID: 9759906

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
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
Ritz E, Prager P, Krempien B, Bommer J, Malluche HH, Schmidt-Gayk H
Kidney Int 1978 Apr;13(4):316-23. doi: 10.1038/ki.1978.45. PMID: 651130

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
Acikgoz G, Averill LW
Nucl Med Commun 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. PMID: 24736329
Munns CF, Glass IA, LaBrom R, Hayes M, Flanagan S, Berry M, Hyland VJ, Batch JA, Philips GE, Vickers D
Hand Surg 2001 Jul;6(1):13-23. doi: 10.1142/s0218810401000424. PMID: 11677662
Mégarbané A, Haddad S, Berjaoui L
Am J Perinatol 1998 Jul;15(7):403-7. doi: 10.1055/s-2007-993966. PMID: 9759906
Morgan DW, Aldren C, Hoare TJ
J Laryngol Otol 1990 Oct;104(10):807-8. doi: 10.1017/s0022215100113957. PMID: 2246582

Clinical prediction guides

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
Shinohara Y, Kamegaya M, Kuniyoshi K, Moriya H
J Bone Joint Surg Br 2002 Mar;84(2):263-8. doi: 10.1302/0301-620x.84b2.11821. PMID: 11922370
Morgan DW, Aldren C, Hoare TJ
J Laryngol Otol 1990 Oct;104(10):807-8. doi: 10.1017/s0022215100113957. PMID: 2246582
Schlesinger AE, Poznanski AK
Pediatr Radiol 1986;16(6):498-500. doi: 10.1007/BF02387965. PMID: 3774395
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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