Potential Influence of Factors For Genu Valgus With Hereditary Multiple Exostoses

Abstract Background: Genu valgus is one of the most common limb deformities in hereditary multiple exostoses (HME). However, it is easily concealed and may account for subsequent osteoarthritis of the knee. The potential influence of factors for genu valgus is still not well known. Methods: The knees of 56 patients (33 male, 23 female) with HME were investigated bilaterally. The mean age at evaluation was 8.9 years (range, 1.5–15.8 years). Knee valgus was described by the mechanical axis deviation (MAD), mechanical lateral distal femoral angle (LDFA), and medial proximal tibial angle (MPTA). We investigated gender, age, body mass index (BMI), total number of palpable osteochondromas, number of radiographic osteochondromas around the knee, forearm deformities, morphology and distribution of lesions, and correlations between these factors and genu valgus. The measurement of LDFA and MPTA was to identify the sources of genu valgus deformity.Results: Based on the measurement of the mechanical axis, limbs were classified as genu valgus (n = 22) or normal mechanical axis groups (n = 90). The different severities of the genu valgus patients were classified by MAD. By bivariate logistic regression, genu valgus was significantly associated with more sessile and flared metaphyseal lesions. However only the number of flared metaphyseal lesions had a significant influence on the severity of genu valgus. By analyzing the LDFA and medial proximal tibial angle MPTA, it was found that abnormalities of both proximal tibia and distal femur play important roles in genu valgus. There were no differences between the genu valgus and normal mechanical axis groups in forearm deformities caused by HME, nor did this differ by severity of genu valgus. Conclusions: Early detection of sessile and flared metaphyseal knee lesions in patients with HME can contribute to early intervention of genu valgus.Level of Relevance: Level 2.

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Relationships between reference lines altered during leg shape correction as requested by the patient

Genij Ortopedii ◽

10.18019/1028-4427-2021-27-3-390-397 ◽

2021 ◽

Vol 27 (3) ◽

pp. 390-397

Author(s):

P.N. Kulesh ◽

◽

L.N. Solomin ◽

◽

Keyword(s):

Mechanical Axis ◽

Deformity Correction ◽

Valgus Deformity ◽

Axis Deviation ◽

Mechanical Axis Deviation ◽

Medial Proximal Tibial Angle ◽

Orthopaedic Patients ◽

Shape Correction ◽

The Relationship ◽

Tibial Valgus

Introduction Patients who want their leg shape changed often identify the O- or X-shaped legs with varus or valgus deformity striving for ideally shaped legs as classified by A. A. Artemiev. The purpose of the study was to compare changes in the relationship between reference lines as mechanical axis deviation (MAD), mechanical medial proximal tibial angle (mMPTA), mechanical lateral distal tibial angle (mLDTA) and the associated duration of the correction (CP), fixation (FP) and frame-on periods (FoP) in patients who underwent correction to have the legs shape as requested and those who underwent tibial deformity correction. Material and methods There were 43 patients (84 segments operated on) in the cosmesis group and 15 participants (28 segments operated on) in orthopedic group. Preperative MAD, mMPTA, mLDTA measured 17.48 ± 1.14 mm medially, 84.90 ± 0.35° and 90.61 ± 0.39° in the cosmesis patients; 19.18 ± 2.86 mm medially, 84.04 ± 0.35°, 89.09 ± 0.37° in orthopaedic patients with no statistically significant differences observed between the groups. Results CP, FP and FoP lasted for 41.93 ± 3.96, 97.67 ± 7.78 and 139.60 ± 5.15 days in the cosmesis group, and 18.22 ± 3.05, 134.89 ± 9.42 and 153.00 ± 8.49 in controls. FP/CP, CP/FoP, FP/FoP measured 0.57 ≈ 1/2, 0.31 ≈ 1/3, 0.69 ≈ 2/3 in the cosmesis group and 0.15 ≈ 1/7; 0.12 ≈ 1/8; 0.88 ≈ 7/8 in controls. MAD, mMPTA, mLDTA measured 6.08 ± 0.87 mm laterally, 90.80 ± 0.31°, 88.62 ± 0.35° in the cosmesis participants, and 0.61 ± 0.82 mm laterally, 89.46 ± 0.54°, 87.68 ± 0. 63° in controls. Discussion There were no statistically significant differences in FoP with different duration of CP (≈ 1/3 FoP for the cosmesis group and ≈ 1/8 FoP for controls). The means of MAD, mMPTA of measured up to tibial valgus in cosmesis patients and were well within acceptable limits of normal in controls.Tibial valgus was caused by too much overcorrection (by ¼ on average).

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Longitudinal Observation of Changes in the Ankle Alignment and Tibiofibular Relationships in Hereditary Multiple Exostoses

Diagnostics ◽

10.3390/diagnostics10100752 ◽

2020 ◽

Vol 10 (10) ◽

pp. 752

Author(s):

Jae Hoo Lee ◽

Chasanal Mohan Rathod ◽

Hoon Park ◽

Hye Sun Lee ◽

Isaac Rhee ◽

...

Keyword(s):

Pediatric Patients ◽

Valgus Deformity ◽

Group V ◽

Hereditary Multiple Exostoses ◽

Longitudinal Changes ◽

Growing Period ◽

Tibial Length ◽

Multiple Exostoses ◽

Longitudinal Observation ◽

Ankle Valgus

The longitudinal changes in the tibiofibular relationship as the ankle valgus deformity progresses in patients with hereditary multiple exostoses (HME) are not well-known. We investigated the longitudinal changes and associating factors in the tibiofibular relationship during the growing period. A total of 33 patients (63 legs) with HME underwent two or more standing full-length anteroposterior radiographs. Based on the change in ankle alignments, thirty-five patients with an increase in tibiotalar angle were grouped into group V, and 28 patients with a decreased angle into group N. In terms of the change in radiographic parameters, significant differences were noted in the tibial length, the fibular/tibial ratio, and the proximal and distal epiphyseal gap. However, age, sex, initial ankle alignment, location of osteochondroma, and presence of tibiofibular synostosis did not affect the tibiofibular alignment. The tibial growth was relatively greater than the fibular growth and was accompanied by significant relative fibular shortening in the proximal and distal portions. In pediatric patients with HME, age, sex, initial ankle alignment, location of the osteochondroma, and synostosis did not predict the progression of the ankle valgus deformity. However, when valgus angulation progressed, relative fibular shortening was observed as the tibia grew significantly in comparison to the fibula.

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Effect of foot deformity on conventional mechanical axis deviation and ground mechanical axis deviation during single leg stance and two leg stance in genu varum

The Knee ◽

10.1016/j.knee.2007.07.009 ◽

2007 ◽

Vol 14 (6) ◽

pp. 452-457 ◽

Cited By ~ 24

Author(s):

Sameer Shrikrishna Desai ◽

Gautam M. Shetty ◽

Hae-Ryong Song ◽

Seok Hyun Lee ◽

Tae Young Kim ◽

...

Keyword(s):

Mechanical Axis ◽

Genu Varum ◽

Axis Deviation ◽

Foot Deformity ◽

Mechanical Axis Deviation ◽

Single Leg Stance

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Correction of knee and ankle valgus in hereditary multiple exostoses using the Ilizarov apparatus

Journal of Orthopaedics and Traumatology ◽

10.1007/s10195-008-0098-z ◽

2008 ◽

Vol 9 (1) ◽

pp. 11-15 ◽

Cited By ~ 5

Author(s):

E. Ofiram ◽

S. Eylon ◽

S. Porat

Keyword(s):

Hereditary Multiple Exostoses ◽

Multiple Exostoses ◽

Ilizarov Apparatus ◽

Ankle Valgus

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Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip

Journal of Pediatric Orthopaedics ◽

10.1097/bpo.0000000000000772 ◽

2018 ◽

Vol 38 (2) ◽

pp. 116-121 ◽

Cited By ~ 4

Author(s):

Maria d.P. Duque Orozco ◽

Oussama Abousamra ◽

Kenneth J. Rogers ◽

Mihir M. Thacker

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Resonance Imaging ◽

Hereditary Multiple Exostoses ◽

Multiple Exostoses

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Hereditary Multiple Exostoses

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-60327-161-5_93 ◽

2007 ◽

pp. 487-492

Keyword(s):

Hereditary Multiple Exostoses ◽

Multiple Exostoses

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Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation Spectrum

10.21203/rs.3.rs-770260/v1 ◽

2021 ◽

Author(s):

yanhan deng ◽

yujian liu ◽

wei tu ◽

liu yang

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Mutation Spectrum ◽

Loss Of Function ◽

Site Mutation ◽

Hereditary Multiple Exostoses ◽

Multiple Osteochondromas ◽

Online Databases ◽

Whole Exome ◽

Multiple Exostoses

Abstract Background: Hereditary Multiple Osteochondromas(HMO) is a rare genetic musculoskeletal disorder characterized by multiple osteochondromas that form near to the growth plates of many bones. Loss-of-function mutations in EXT1 or EXT2 that encode glycosyltrasferases are the causal mutations for most HMO patients.Methods: After collecting the family history and clinical information, we used Whole-Exome Sequencing to find the pathogenic mutations in one Chinese Hereditary Multiple Exostoses pedigree. Sanger sequencing and relevant online databases were used to validate the screened variants. Lollipop plots were drew to map the reported mutations from online databases (Multiple Osteochondroma Mutation Database and clinvar)on a linear protein domains by MutationMapper.Results: A novel heterozygous splicing-site mutation in gene EXT1 (NM_000127:exon5:c.1417+1G>C，chr8:118834703) was found in this pedigree and mutation spectrum of genes EXT1 and EXT2 were demonstrated.Conclusions: Our results help this pedigree to identify the pathogenic variant and guide the prenatal diagnosis, also expand the mutation spectrum in Hereditary Multiple Osteochondromas.

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