Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. SEDC is usually caused by substitution of glycine residue with another amino acid in the triple helical domains of alpha 1 chains, which consist of type II collagen (COL2A1). Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele. One mutation, p.G504S, was previously described in patients with SEDC, whereas the other, p.G612A, was a novel mutation; both were located in the triple helical domain. Neither mutation was identified in the parents and appeared to be de novo. To the best of our knowledge, this is the first study involving a patient with a type II collagenopathy with two COL2A1 mutations on the same allele. The case was characterized by a more severe phenotype compared with previously reported cases involving a single p.G504S mutation, which may have been the result of the double mutation.

Midterm results after subtrochanteric end-to-side valgization osteotomy in severe infantile coxa vara.

BACKGROUND: For the treatment of the severe infantile coxa vara it is mandatory for the orthopaedic surgeon to observe the mechanobiology of the growing hip before and after the surgical intervention. We hereby would like to present our experiences with the subtrochanteric end-to-side valgization osteotomy and to compare the procedure with the alternatively used Y-shaped osteotomy as described by Pauwels. METHODS: Thirteen patients (20 hips) who had undergone subtrochanteric end-to-side valgization were followed for a mean 6.2 years (range, 0.8 to 12.8 y). At the time of surgery the mean age was 7.1 years (range, 2.0 to 13.3 y), last follow-up examination was performed at a mean of 13.4 years of age (range, 5.1 to 18.3 y). The deformities were etiologically based on 5 entities: congenital coxa vara (n=1), osteochondrodysplasias (n=12), postosteomyelitic coxa vara (n=5), and avascular femoral head necrosis in the course of congenital dysplasia of the hip (n=2). The follow-up rate was 100%.In addition, we analyzed a total of 93 pelvic radiographies with a total of 139 hip joints. Thirty angles and distances were assessed according to parameters described in the literature. RESULTS: Although preoperatively 12 patients presented with a positive Trendelenburg's sign, it was only present postoperatively in 2 patients. Duchenne's limp reduced from 10 to 1. All of the 15 preoperatively apparent nonunions could be healed by means of surgery. Two hips redeveloped pathologically lowered collodiaphyseal angles postoperatively, one of which had to undergo revision surgery. Preoperatively 15 out of 20 patients (75%) showed nonunions all of which healed after surgery. No recurrence could be seen at the time of the last follow-up.The following angles were assessed on plain radiographies of the pelvis preoperatively and directly postoperatively as well as on the last follow-up at a mean of 85 months: CCD-angle 98 degrees/156 degrees/144 degrees, EY-angle 55 degrees/5 degrees/15.7 degrees, AY-angle 32 degrees/75 degrees/66 degrees, CE-angle 20 degrees/25 degrees/18 degrees, AC-angle 20 degrees/18 degrees/20 degrees. The articulotrochanteric distance was 5 mm/26 mm/14 mm. CONCLUSIONS: The subtrochanteric end-to-side valgization osteotomy showed to be highly effective in the management of the infantile coxa vara, improving the clinical impairment of the patients postoperatively. All of the preoperatively present nonunions showed osseous consolidation at follow-up examination. Only minor revarization tendencies could be found. The procedure is technically less demanding, safer and more efficient regarding the lengthening of the affected limb in comparison to the Y-shaped intertrochanteric osteotomy as described by Pauwels. LEVEL OF EVIDENCE: Case-control study (EBM-level III).

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.

Ángulo de Inclinación del Fémur en el Hombre y su Relación con la Coxa Vara y la Coxa Valga / Angle of Inclination of Femur in Man and its Relationship with Coxa Vara and Coxa Valga

Los autores realizan mediciones en fémures aislados, realizando comparación de los datos obtenidos con los resultados encontrados en la literatura investigada, con el objeto de determinar de forma porcentual los valores limítrofes para clasificar la coxa como vara o valga. Fueron analizados 56 fémures de cadáveres adultos, siendo determinado el ángulo de inclinación del fémur, que fue medido a través de un Goniómetro. Utilizamos el patrón poblacional normal de 66 por ciento (o test Z) para determinar cuál es el intervalo donde se encuentra el alineamiento ideal. En las mediciones de los ángulos de inclinación de los 56 fémures, los valores se encontraban entre 117,67 grados y 136,67 grados. Utilizando el patrón poblacional normal de 66 por ciento (o test Z), verificamos que el intervalo ideal (o normal) se encuentra entre 117 grados y 136 grados, siendo éste el intervalo donde se encuentra el alineamiento ideal. En este intervalo encontramos 47 fémures (84 por ciento). La determinación normal del ángulo entre 117 grados y 136 grados, posibilita clasificar de coxa valga cuando el ángulo de inclinación está debajo de 177 grados y coxa vara encima de 136 grados.

The authors carried out isolated mensuration in femurs to compare data with the results found in literature. The objective was to determine in percentile form, bordering values to classify the thigh as pole or valgum. Fifty six femurs of adult corpses were analyzed, determining the angle of inclination in the femur, which was measured through a Goniometry. We used the normal population standard of 66 percent (or tested Z): to determine in which interval the ideal alignment is found. In the mensuration of inclination angles in 56 femurs., the values were between 117.67 and 136.67 degrees. Using the normal population standard of 66 percent (or tested Z), we verified the ideal interval (or normal) with findings between 117 and 136 degrees, the ideal alignment. In this interval we found 47 femurs (84 percent). The normal determination of the angle between 117 and 135 degrees allows classifying thigh valgum, when the angle of inclination is below 117 degrees and coxa vara is above 136 degrees.