A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.

RATIONALE: Spondylometaphyseal dysplasia (SMD) is an extremely rare disorder of irregular development of spine and metaphyses of long tubular bones. Mutations in the collagen type X alpha 1 gene were found to underlie this condition. Previously reported mutations in the N-terminal non-collagenous NC2 domain and C-terminal non-collagenous NC1 domain failed to be identified in some specific patients. PATIENT CONCERNS: A 23-year-old male was referred to us for fixed, angular thoracolumbar kyphosis with semi-paralysis, numbness, and tremor on his left lower limb. Marked hypoplasia of thoracolumbar vertebra and spinal canal stenosis were observed on radiology. DIAGNOSES: He was diagnosed with spondylometaphyseal dysplasia (Type A4). Gene sequencing was performed using normalized targeted regions sequencing (TRS). A novel heterozygous missense variant p.Gly139Cys in the triple-helical region. Multiple lines of evidence imply this mutation to be pathogenic. INTERVENTIONS: Posterior instrumentation and vertebral column resection were given to correct his fixed, angular thoracolumbar kyphosis. OUTCOMES: The correction was satisfying and the functional outcomes were good. LESSONS SUBSECTIONS AS PER STYLE: The findings corroborated that type X collagen plays a critical role in the formation of the human spine as well as the long bones, and further expanded the range of type X collagenopathy. Surgical procedure could be considered for patients with severe malformation and neurological impairments.

Determinants of Hip Displacement in Children With Cerebral Palsy.

BACKGROUND: Coxa valga and femoral anteversion often are seen in patients with spastic hip displacement and osteotomy is recommended. However, the relationship between femoral deformities and hip displacement has not been clearly defined and other factors, such as joint motion and posture, should be considered before recommending treatment. QUESTIONS: For children with cerebral palsy with Gross Motor Function Classification System Level IV or V, we questioned (1) whether hip abduction range correlates with hip displacement, (2) what the relationships are between proximal femoral deformities and hip displacement, and (3) whether the patient with a windblown posture has greater degrees of femoral anteversion? METHODS: We retrospectively studied 31 consecutive children with cerebral palsy with Level IV or V gross motor function who underwent three-dimensional CT for preoperative assessment of hip displacement between January 2010 and December 2013. Among the children, 23 had a windblown posture and eight had symmetric hip motion. Femoral anteversion and true neck-shaft angle were measured from the three-dimensional CT images. Migration percentage was the dependent variable we chose to study in relation to femoral anteversion, neck-shaft angle, maximal hip abduction, and hip flexion contracture, using correlations and multiple linear regressions. Using ANOVA and Scheffé's post hoc tests, we analyzed and compared the data of 23 abducted hips and 23 adducted hips in the 23 children with windblown posture and in 16 displaced hips in the eight children with symmetric hip abduction. RESULTS: Greater migration percentage was associated with less hip abduction range (r = -0.86; p < 0.001). Femoral anteversion had a weak correlation (r = 0.28; p < 0.05) to migration percentage, and the association became insignificant after considering hip abduction motion. Adducted windblown hips had greater femoral anteversion than the symmetric displaced hips and abducted windblown hips (46° vs 36° and 38°, respectively; p < 0.05). CONCLUSIONS: Our study results did not support a relationship between femoral deformities and hip displacement after considering gross motor function and hip abduction motion. Greater femoral anteversion was noted in the adducted hips of patients with windblown posture, and derotation osteotomy is especially recommended. LEVEL OF EVIDENCE: Level III, diagnostic study.

Knee malalignment is associated with an increased risk for incident and enlarging bone marrow lesions in the more loaded compartments: the MOST study.

OBJECTIVE: To examine the relationship of knee malalignment with occurrence of incident and enlarging bone marrow lesions (BMLs) and regression of BMLs. METHODS: Subjects from the Multicenter Osteoarthritis Study aged 50-79 years with or at high risk of knee osteoarthritis were studied. Full-limb radiographs were taken at baseline and hip-knee-ankle mechanical axis was measured. Baseline and 30-month magnetic resonance imaging (MRI) of knees (n = 1782) were semiquantitatively assessed for BMLs. Outcome was defined as a change in BML score in femoral/tibial condyle in medial/lateral compartments. Medial compartment in varus alignment and lateral compartment in valgus alignment were combined to form 'more loaded' compartment, while lateral compartment in valgus and medial compartment in varus were combined to form 'less loaded' compartment. Relative risk (RR) of BML score increase or decrease in relation to malalignment was estimated using a log linear regression model with the Poisson assumption, adjusting for age, gender, body mass index, physical activity scale for the elderly, race and clinic site. Further, results were stratified by ipsilateral meniscal and cartilage status at baseline. RESULTS: Baseline varus alignment was associated with higher risk of BML score increase from baseline to follow-up in the medial compartment [adjusted RRs (95%CI): 1.5 (1.2-1.9)] and valgus alignment in the lateral compartment [1.4 (1.0-2.1)]. Increase in BML score was more likely in the more loaded compartments [1.7 (1.4-2.0)] in malaligned knees. Regardless of ipsilateral cartilage or meniscus status, adjusted RR for BML score increase was higher in the more loaded compartments of malaligned knees than those with neutral alignment. Decrease in BML score was less likely in the more loaded compartments in malaligned knees [0.8 (0.7-1.0)]. CONCLUSION: Knee malalignment is associated with increased risk of incident and enlarging BMLs in the more loaded compartments of the tibiofemoral joint.

Better outcomes in severe and morbid obese patients (BMI > 35 kg/m2) in primary Endo-Model rotating-hinge total knee arthroplasty.

The Endo-Model rotating-hinge prosthesis is preferably indicated as a primary implant in patients with advanced axial deviation of the lower limbs or unstable knees with severe bone defects. Outcomes were studied in 111 knees, operated in a three-year period; the mean followup was 28 months. Joint balance enhancement and limbs mechanical axis correction were achieved after surgery. There were 6 deep infections and 16 patients referred postoperative anterior knee pain. WOMAC index scores disaggregated by gender and BMI showed better outcomes in obese patients (specifically, those with a BMI of 35-40 kg/m(2)) and in men. Although the lack of a control group did not allow definite conclusions and despite a nonnegligible complication rate, our results reveal that the Endo-Model total knee arthroplasty can be a useful tool to deal with severe and morbid obese patients affected of severe gonarthrosis associated with marked axial deviations, ligament instability, or bone defects.