Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a cohort of 37 patients with TTD at the National Institutes of Health (NIH) from 2001 to 2019 with a median age at last observation of 12 years (range 2-36). Some children with TTD developed rapidly debilitating hip degeneration (DHD): a distinctive pattern of hip pain, inability to walk, and avascular necrosis on imaging. Ten (27%) of the 37 patients had DHD at median age 8 years (range 5-12), followed by onset of imaging findings at median age 9 years (range 5-13). All 10 had mutations in the ERCC2/XPD gene. In 7 of the 10 affected patients, DHD rapidly became bilateral. DHD was associated with coxa valga, central osteosclerosis with peripheral osteopenia of the skeleton, and contractures/tightness of the lower limbs. Except for one patient, surgical interventions were generally not effective at preventing DHD. Four patients with DHD died at a median age of 11 years (range 9-15). TTD patients with ERCC2/XPD gene mutations have a high risk of musculoskeletal abnormalities and DHD leading to poor outcomes. Monitoring by history, physical examination, imaging, and by physical medicine and rehabilitation specialists may be warranted.

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.

Is coxa valga a predictor for the severity of knee osteoarthritis? A cross-sectional study.

PURPOSE: In the present study, we aimed to evaluate the affect of the variations in hip anatomy and pelvic geometry on the severity of knee OA. METHODS: Idiopathic knee OA patients fulfilling the clinical criteria of American College of Rheumatology for OA were enrolled in the study. Several measurements regarding the hip and pelvis were performed on pelvic radiographs. Each knee was graded according to the Kellgren and Lawrence (KL) radiographic system (0-4) along with a categorization in accordance with the medial tibiofemoral joint space widths (JSW). RESULTS: The study group consisted of 111 subjects. The inner and outer pelvic diameters were getting wider as the JSW grade increased. Likewise, among the hip measurements, femoral head, neck and shaft diameters and hip axis lengths were linked with KL grade. There were significant differences in neck-shaft angle (NSA) between groups of JSW with a highest NSA in JSW grade 3. The optimal cut-off value for NSA in predicting the severity of knee OA was 134.4°. Furthermore, NSA beyond 134.4° was found to increase the risk of severe knee OA eightfold. CONCLUSIONS: Variations in pelvic geometry and hip anatomy are associated with the severity of knee OA. People with NSA of above 134.4° have eightfold increased risk of developing severe knee OA. Pelvic radiographies could be evaluated at younger ages-particularly in people with high genetic predispositions-to identify the individuals at high risk and in turn, to tailor the preventive measures to these subjects.

[Crooked legs- just an aesthetic problem]. / Krumme Beine - mehr als ein ästhetisches Problem?

Because the lower extremities are weight bearing, malalignment plays a key role in the development of degenerative disease of the joints. This is particularly true as degenerative arthropathy is of mechanical and not inflammatory cause. Deviation of the axis has been shown to alter the load and force distribution in the joint and thereby causing excessive wear. Whether or not a deformity is clinically relevant or not depends on the symptoms, the amount of the deformity and the location of the deformity. Relevant deformities can be treated with orthotics or corrective osteotomies in early stages. In late stages fusions or joint replacement is the mainstay of treatment.

Parce que les extrémités inférieures portent un poids, un mauvais alignement de ces dernières joue un rôle clé dans le développement des atteintes dégénératives des articulations. Cela est particulièrement vrai puisque l'arthropathie dégénérative est d'origine mécanique et non pas inflammatoire. Une déviation axiale a été montrée modifier la répartition des charges et des forces dans l'articulation et provoquer ainsi un poids excessif. Qu'une déformation soit significative ou non sur le plan clinique dépend des symptômes, de l'importance et de la localisation de la déformation. Les déformations significatives peuvent être traitées dans des stades précoces par des ostéotomies orthotiques ou correctrices. Dans les stades tardifs des fusions ou des remplacements articulaires représentent les options thérapeutiques principales.

Valgus hip with high antetorsion causes pain through posterior extraarticular FAI.

BACKGROUND: Valgus hips with increased antetorsion present with lack of external rotation and posterior hip pain that is aggravated with hip extension and external rotation. This may be the result of posterior femoroacetabular impingement (FAI). QUESTIONS/PURPOSES: We asked whether (1) the range of motion (ROM); (2) the location of anterior and posterior bony collision zones; and (3) the prevalence of extraarticular impingement differ between valgus hips with increased antetorsion compared with normal hips and hips with idiopathic FAI. METHODS: Surface models based on CT scan reconstructions of 13 valgus hips with increased antetorsion, 22 hips with FAI, and 27 normal hips were included. Validated three-dimensional collision detection software was used to quantify the simulated hip ROM and the location of impingement on the acetabular and the femoral sides. RESULTS: Hips with coxa valga and antetorsion showed decreased extension, external rotation, and adduction, whereas internal rotation in 90° of flexion was increased. Impingement zones were more anteroinferior on the femur and posteroinferior on the acetabular (pelvic) side; and the zones were more frequently extraarticular, posterior, or to a lesser degree anterior against the inferior iliac spine. We found a higher prevalence of extraarticular impingement for valgus hips with increased antetorsion. CONCLUSIONS: Valgus hips with increased antetorsion predispose to posterior extraarticular FAI and to a lesser degree anteroinferior spine impingement.

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.