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Tibial metaphyseal irregularity

MedGen UID:
868142
Concept ID:
C4022533
Anatomical Abnormality
HPO: HP:0030292

Definition

Irregularity of the normally smooth surface of a metaphysis of a tibia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTibial metaphyseal irregularity

Conditions with this feature

Spondylometaphyseal dysplasia, Schmidt type
MedGen UID:
356595
Concept ID:
C1866688
Disease or Syndrome
Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.

Recent clinical studies

Etiology

Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y
Eur J Med Genet 2020 Nov;63(11):104021. Epub 2020 Aug 2 doi: 10.1016/j.ejmg.2020.104021. PMID: 32755715
Marine MB, Hibbard RA, Jennings SG, Karmazyn B
Pediatr Radiol 2019 Jun;49(7):913-921. Epub 2019 Mar 28 doi: 10.1007/s00247-019-04373-w. PMID: 30923870
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750

Diagnosis

Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Oestreich AE, Bofinger MK
Pediatr Radiol 1989;19(5):341-2. doi: 10.1007/BF02467312. PMID: 2755749
Keats TE, Joyce JM
Skeletal Radiol 1984;12(2):112-8. doi: 10.1007/BF00360815. PMID: 6484595
Chu JY, Ho JE, Monteleone PL, O'Connor DM
Pediatrics 1979 Nov;64(5):635-9. PMID: 492837

Therapy

Sharma R, Anand R, Chandra J, Seth A, Pemde H, Singh V
Pediatr Blood Cancer 2013 Dec;60(12):1957-62. Epub 2013 Aug 13 doi: 10.1002/pbc.24678. PMID: 23940095
de Sanctis V, Savarino L, Stea S, Cervellati M, Ciapetti G, Tassinari L, Pizzoferrato A
Calcif Tissue Int 2000 Aug;67(2):128-33. doi: 10.1007/s00223001122. PMID: 10920217
De Sanctis V, Stea S, Savarino L, Scialpi V, Traina GC, Chiarelli GM, Sprocati M, Govoni R, Pezzoli D, Gamberini R, Rigolin F
J Pediatr Endocrinol Metab 1998;11 Suppl 3:827-33. PMID: 10091153
Chu JY, Ho JE, Monteleone PL, O'Connor DM
Pediatrics 1979 Nov;64(5):635-9. PMID: 492837

Prognosis

Abdel-Wanis ME, Tsuchiya H, Minato H, Morinaga T, Yamamoto N, Tomita K
J Orthop Sci 2001;6(6):595-600. doi: 10.1007/s007760100018. PMID: 11793185
Maroteaux P, Verloes A, Stanescu V, Stanescu R
Am J Med Genet 1991 Apr 1;39(1):4-10. doi: 10.1002/ajmg.1320390103. PMID: 1867263
Marine JM, DiSimone RE, Clancy MJ
Orthopedics 1989 Nov;12(11):1500-1, 1504-7. doi: 10.3928/0147-7447-19891101-17. PMID: 2587453
Hall BD, Spranger JW
Radiology 1979 Sep;132(3):611-4. doi: 10.1148/132.3.611. PMID: 472236

Clinical prediction guides

Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ
Radiographics 2016 Oct;36(6):1871-1887. doi: 10.1148/rg.2016160004. PMID: 27726750
Maroteaux P, Verloes A, Stanescu V, Stanescu R
Am J Med Genet 1991 Apr 1;39(1):4-10. doi: 10.1002/ajmg.1320390103. PMID: 1867263
Marine JM, DiSimone RE, Clancy MJ
Orthopedics 1989 Nov;12(11):1500-1, 1504-7. doi: 10.3928/0147-7447-19891101-17. PMID: 2587453

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