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Irregular proximal tibial epiphyses

MedGen UID:
870596
Concept ID:
C4025045
Anatomical Abnormality
Synonyms: Irregular innermost shankbone end part; Irregular innermost shinbone end part
 
HPO: HP:0006456

Definition

Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIrregular proximal tibial epiphyses

Conditions with this feature

Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).

Recent clinical studies

Etiology

Wang J, Du Z, Yang R, Tang X, Yan T, Guo W
J Orthop Sci 2022 Jan;27(1):235-241. Epub 2021 Jan 5 doi: 10.1016/j.jos.2020.12.009. PMID: 33419623
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
Borgo A, Cossio A, Gallone D, Vittoria F, Carbone M
Ital J Pediatr 2018 Nov 16;44(Suppl 2):123. doi: 10.1186/s13052-018-0557-y. PMID: 30442173Free PMC Article
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
Thompson GH, Carter JR, Smith CW
J Pediatr Orthop 1984 Mar;4(2):185-94. doi: 10.1097/01241398-198403000-00007. PMID: 6699160

Diagnosis

Borgo A, Cossio A, Gallone D, Vittoria F, Carbone M
Ital J Pediatr 2018 Nov 16;44(Suppl 2):123. doi: 10.1186/s13052-018-0557-y. PMID: 30442173Free PMC Article
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
Shinoda S, Hasegawa Y, Kawasaki S, Tagawa N, Iwata H
Skeletal Radiol 1997 Jun;26(6):354-9. doi: 10.1007/s002560050247. PMID: 9229418
Marine JM, DiSimone RE, Clancy MJ
Orthopedics 1989 Nov;12(11):1500-1, 1504-7. doi: 10.3928/0147-7447-19891101-17. PMID: 2587453
Thompson GH, Carter JR, Smith CW
J Pediatr Orthop 1984 Mar;4(2):185-94. doi: 10.1097/01241398-198403000-00007. PMID: 6699160

Therapy

Shinoda S, Hasegawa Y, Kawasaki S, Tagawa N, Iwata H
Skeletal Radiol 1997 Jun;26(6):354-9. doi: 10.1007/s002560050247. PMID: 9229418

Prognosis

Caterini R, Manili M, Spinelli M, Santori FS, Ippolito E
Arch Orthop Trauma Surg 1992;111(6):327-32. doi: 10.1007/BF00420060. PMID: 1449941
Marine JM, DiSimone RE, Clancy MJ
Orthopedics 1989 Nov;12(11):1500-1, 1504-7. doi: 10.3928/0147-7447-19891101-17. PMID: 2587453
Thompson GH, Carter JR, Smith CW
J Pediatr Orthop 1984 Mar;4(2):185-94. doi: 10.1097/01241398-198403000-00007. PMID: 6699160

Clinical prediction guides

Wang J, Du Z, Yang R, Tang X, Yan T, Guo W
J Orthop Sci 2022 Jan;27(1):235-241. Epub 2021 Jan 5 doi: 10.1016/j.jos.2020.12.009. PMID: 33419623
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
Shinoda S, Hasegawa Y, Kawasaki S, Tagawa N, Iwata H
Skeletal Radiol 1997 Jun;26(6):354-9. doi: 10.1007/s002560050247. PMID: 9229418
Caterini R, Manili M, Spinelli M, Santori FS, Ippolito E
Arch Orthop Trauma Surg 1992;111(6):327-32. doi: 10.1007/BF00420060. PMID: 1449941
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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