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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

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
Role of MRI in detecting early physeal changes due to acute osteoarticular infection around the knee joint: a pilot study.
Wardak E, Gill S, Wardak M, Sen R, Singh P, Kumar V, Saini R, Jha N
Int Orthop 2009 Dec;33(6):1707-11. Epub 2008 Aug 1 doi: 10.1007/s00264-008-0625-9. PMID: 18670775Free PMC Article
Isolated Madelung's deformity: long-term follow-up study of five patients treated surgically.
Potenza V, Farsetti P, Caterini R, Tudisco C, Nicoletti S, Ippolito E
J Pediatr Orthop B 2007 Sep;16(5):331-5. doi: 10.1097/BPB.0b013e3282ee9183. PMID: 17762672
Manual versus digital radiographic measurements in acetabular dysplasia.
Halanski MA, Noonan KJ, Hebert M, Nemeth BA, Mann DC, Leverson G
Orthopedics 2006 Aug;29(8):724-6. doi: 10.3928/01477447-20060801-07. PMID: 16924867
Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta.
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

Diagnosis

Pictorial review: challenges in distinguishing bilateral metaphyseal marrow abnormalities on magnetic resonance imaging.
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
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
Tibial osteochondroma inducing popliteal artery compression.
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
The utility of MR in assessing Blount disease.
Craig JG, van Holsbeeck M, Zaltz I
Skeletal Radiol 2002 Apr;31(4):208-13. Epub 2002 Jan 30 doi: 10.1007/s00256-001-0464-x. PMID: 11904688
Lesser metatarsalgia evaluation and treatment.
Jimenez AL, Martin DE, Phillips AJ
Clin Podiatr Med Surg 1990 Oct;7(4):597-618. PMID: 2253167

Therapy

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
Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta.
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
Neck metaphyseal angle guidance in proximal femoral varus osteotomy.
Grant AD, Strongwater A, Lehman W, Nelson J, Atar D
J Pediatr Orthop 1990 Jan-Feb;10(1):9-13. PMID: 2298902
Limb lengthening and three-dimensional deformity corrections. A retrospective clinical study.
Korzinek K, Tepic S, Perren SM
Arch Orthop Trauma Surg 1990;109(6):334-40. doi: 10.1007/BF00636172. PMID: 2073453
Skeletal X-ray findings and bone histology in patients on hemodialysis.
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

Role of MRI in detecting early physeal changes due to acute osteoarticular infection around the knee joint: a pilot study.
Wardak E, Gill S, Wardak M, Sen R, Singh P, Kumar V, Saini R, Jha N
Int Orthop 2009 Dec;33(6):1707-11. Epub 2008 Aug 1 doi: 10.1007/s00264-008-0625-9. PMID: 18670775Free PMC Article
Isolated Madelung's deformity: long-term follow-up study of five patients treated surgically.
Potenza V, Farsetti P, Caterini R, Tudisco C, Nicoletti S, Ippolito E
J Pediatr Orthop B 2007 Sep;16(5):331-5. doi: 10.1097/BPB.0b013e3282ee9183. PMID: 17762672
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.
Mégarbané A, Haddad S, Berjaoui L
Am J Perinatol 1998 Jul;15(7):403-7. doi: 10.1055/s-2007-993966. PMID: 9759906
Lengthening for congenital short femur. Results of different methods.
Grill F, Dungl P
J Bone Joint Surg Br 1991 May;73(3):439-47. doi: 10.1302/0301-620X.73B3.1670446. PMID: 1670446
Oblique tibial osteotomy in the correction of tibial deformity in children.
Kruse RW, Bowen JR, Heithoff S
J Pediatr Orthop 1989 Jul-Aug;9(4):476-82. PMID: 2732331

Clinical prediction guides

Isolated Madelung's deformity: long-term follow-up study of five patients treated surgically.
Potenza V, Farsetti P, Caterini R, Tudisco C, Nicoletti S, Ippolito E
J Pediatr Orthop B 2007 Sep;16(5):331-5. doi: 10.1097/BPB.0b013e3282ee9183. PMID: 17762672
Manual versus digital radiographic measurements in acetabular dysplasia.
Halanski MA, Noonan KJ, Hebert M, Nemeth BA, Mann DC, Leverson G
Orthopedics 2006 Aug;29(8):724-6. doi: 10.3928/01477447-20060801-07. PMID: 16924867
Natural history of infantile tibia vara.
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
Oblique tibial osteotomy in the correction of tibial deformity in children.
Kruse RW, Bowen JR, Heithoff S
J Pediatr Orthop 1989 Jul-Aug;9(4):476-82. PMID: 2732331
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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