A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β binding protein 3 (LTBP3) gene have been found implicated in the pathogenesis of this disorder. So far, biallelic pathogenic LTBP3 variants have been identified in less than 10 families. We here report a young boy born from consanguineous parents with a complex phenotype including skeletal dysplasia associated with aortic stenosis, hypertrophic cardiomyopathy, hypodontia and amelogenesis imperfecta caused by a previously unreported homozygous LTBP3 splice site variant. We also compare the genotypes and phenotypes of patients reported to date. This work provides further evidence that brachyolmia with amelogenesis imperfecta is a distinct nosologic entity and that variations in LTBP3 are involved in its pathogenesis.

Reconstruction of the Hip in Multiple Hereditary Exostoses

The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30–90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga, acetabular dysplasia, hip joint subluxation, and osteoarthritis. The purpose of this study was to investigate the clinical and radiographic outcomes of ten hips in seven patients treated by surgical dislocation and corrective osteotomies between 2004 and 2009. Surgical dislocation and excision of the osteochondromas and varus intertrochanteric osteotomies were performed in all cases when the neck–shaft angle was > 150°. Common sites of osteochondromas were medial, posterior, and anterior neck of the femur. Neck–shaft angle of the femur was improved from a mean of 157° to 139°, postoperatively. On an average, the center-edge angle improved from 20° to 30° postoperatively. We believe that Ganz’s safe surgical dislocation technique is the preferred treatment of MHE. This safeguards the circulation of the femoral head and the osteochondromas can be resected under direct vision. It can be combined with additional corrective osteotomies because the hip affected by MHE is frequently associated with dysplastic changes which can result in premature osteoarthritis.

Characteristics of hip impingement syndrome in patients with multiple hereditary exostoses

Backgrounds This study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement syndrome. Materials and methods Between 2001 and 2019, total 51 patients (102 hips) were evaluated in this study. Patients with MHE were classified to femoro-acetabular impingement (FAI) symptom group, ischio-femoral impingement (IFI) symptom group and non-impingement symptom group by comparing the symptoms, clinical signs and imaging studies. To assess the morphometry of the hip in patients with MHE, the femoral neck-shaft angle, Sharp’s acetabular angle and center-edge (CE) angle were evaluated. Alpha angle was further evaluated to investigate the FAI using radiographs, and the minimum ischio-femoral distance was further measured to investigate the IFI using computed-tomographic (CT) study. Results On hip impingement symptom analysis, FAI symptom and IFI symptom were confirmed in 14 hip joints and 18 hip joints, respectively. Unlike general population, the number of the hip with IFI-symptom was higher than those with FAI symptom in this study. In morphometric evaluation of MHE hips, coxa valga was most prominent deformity with occasional tendency of mild acetabular dysplasia. In a comparison of morphometric study between the impingement symptom group and non-symptom group, the FAI symptom showed significant differences of morphometric measure values than those of the non-symptom group (FAI symptom group vs. Non-FAI symptom group; Femoral neck-shaft angle (153.9 vs 142.6), Sharp’s angle (45.0 vs 41.5), CE angle (21.1 vs 28.8) and alpha angle (76.7 vs 57.9)). Similarly, the IFI symptom group also showed significant differences of morphometric measure values than those of the non-symptom group (IFI-symptom vs. Non-IFI symptom; Femoral neck-shaft angle (150.9 vs 142.7), Sharp’s angle (44.7 vs 41.4), CE angle (21.1 vs 29.3) and alpha angle (73.3 vs 56.8)). In addition, the minimum ischio-femoral distance measured using CT was significantly decreased in the IFI symptom group (IFI symptom group: 6.6, Non-IFI symptom group: 16.4). Conclusion The results suggest that the characteristic deformities represented by coxa valga in the MHE hip act as an offset for FAI symptoms, on the contrary, act as a trigger for IFI symptoms. Level of evidence Level III.

Characteristics of Hip Impingement Syndrome in patients with Multiple Hereditary Exostoses

BackgroundsThis study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement syndrome.Materials and methods Between 2001 and 2019, total 51 patients (102 hips) were evaluated in this study. To assess the morphometry of the hip in patients with MHE, the femoral neck-shaft angle, Sharp’s acetabular angle and center-edge (CE) angle were evaluated. Hip impingement symptoms were classified to femoro-acetabular impingement (FAI) symptom group, ischio-femoral impingement (IFI) symptom group and non-impingement symptom group by comparing the symptoms, clinical signs and imaging studies. Alpha angle was evaluated to investigate the FAI. The minimum ischio-femoral distance was measured to evaluate for IFI using computed-tomographic study. Each measured morphometric study was compared according to gender, location and hip impingement symptom.Results Coxa valga and acetabular dysplasia were common with a mean femoral neck-shaft angle of 144.1°, mean CE angle of 27.9°, and mean Sharp’s acetabular angle of 42.0°. Each of the measured value for assessment of hip deformity was correlated significantly. Morphometric study on gender showed no significant difference except the alpha angle value. In addition, no significant difference was shown on comparison study by location of hip. On hip impingement symptom analysis, FAI symptom and IFI symptom were confirmed in 14 hip joints and 18 hip joints, respectively. The number of hip joints with IFI symptom was higher than those with FAI symptom in this study. Furthermore, both the FAI and IFI symptom group showed significant differences from the non-symptom group in the morphometric study. In addition, the minimum ischio-femoral distance was significantly decreased in the IFI symptom group, which seems to be associated with coxa valga deformity.Conclusion The results suggest that the characteristic deformities that occur in the hip joint of MHE patients affect the appearance of impingement syndrome. Therefore, it is necessary to carefully evaluate the characteristic deformities of the hip joint in patients with MHE and to set up the treatment modality accordingly.Level of Evidence : Level III, retrospective comparative study

Does screw position matter for guided growth in cerebral palsy hips?

Aims Guided growth has been used to treat coxa valga for cerebral palsy (CP) children. However, there has been no study on the optimal position of screw application. In this paper we have investigated the influence of screw position on the outcomes of guided growth. Methods We retrospectively analyzed 61 hips in 32 CP children who underwent proximal femoral hemi epiphysiodesis between July 2012 and September 2017. The hips were divided into two groups according to the transphyseal position of the screw in the coronal plane: across medial quarter (Group 1) or middle quarter (Group 2) of the medial half of the physis. We compared pre- and postoperative radiographs in head-shaft angle (HSA), Reimer’s migration percentage (MP), acetabular index (AI), and femoral anteversion angle (FAVA), as well as incidences of the physis growing-off the screw within two years. Linear and Cox regression analysis were conducted to identify factors related to HSA correction and risk of the physis growing-off the screw. Results A total of 37 hips in Group 1 and 24 hips in Group 2 were compared. Group 1 showed a more substantial decrease in the HSA (p = 0.003) and the MP (p = 0.032). Both groups had significant and similar improvements in the AI (p = 0.809) and the FAVA (p = 0.304). Group 1 presented a higher incidence of the physis growing-off the screw (p = 0.038). Results of the regression analysis indicated that the eccentricity of screw position correlated with HSA correction and increases the risk of the physis growing-off the screw. Conclusion Guided growth is effective in improving coxa valga and excessive femoral anteversion in CP children. For younger children, despite compromised efficacy of varus correction, we recommend a more centered screw position, at least across the middle quarter of the medial physis, to avoid early revision. Cite this article: Bone Joint J 2020;102-B(9):1242–1247.

Morphological patterns of the hip joint structure in students of choreography schools and young athletes involved in sports associated with the art of movement

Students of choreography schools and young athletes involved in sports associated with the art of movement usually have dysplastic hip joints with normal acetabular coverage and femoral Coxa valga, whose normal limits require further discussion. We have identified 5 X-Ray morphological patterns of the hip joint structure typical of such individuals, and analyzed their association with professional qualities. Key words: hip dysplasia, dysplastic constitution, Coxa valga, young athletes, rhythmic gymnastics, choreography, ballet

You “Cantu”: Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery

Cantú syndrome (CS) is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the ABCC9 or KCNJ8 gene. The disorder is characterized by congenital generalized hypertrichosis, coarse acromegaloid facial features (broad nasal bridge, epicanthal folds, wide mouth, macroglossia), skeletal abnormalities (calvarial thickening, metaphyseal flares, coxa valga, scoliosis), tortuous vasculature (meningeal arteriovenous malformations), and cardiac abnormalities (patent ductus arteriosus, pericardial effusion). Despite the constellation of craniofacial features, there are currently no documented cases of a patient with CS having orthognathic surgery. The purpose of this report is to highlight the multidisciplinary collaboration, including establishment of a genetic diagnosis, cardiac management, and orthodontic therapy, in performing successful orthognathic surgery in a patient with CS.

Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan

Background: Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal form of skeletal dysplasia, characterized by abnormal craniofacial phenotype, short stature, and mesomelia of the upper and lower limbs. Methods: We describe two female patients with LWD. Their prime clinical complaints were severe bouts of migraine and antalgic gait. Results: Interestingly, via a 3D reconstruction CT scan we encountered several major anomalies. Notable features of craniosynostosis through premature fusion of the squamosal sutures and partial closure of the coronal sutures were the reason behind the development of abnormal craniofacial contour. A 3D reconstruction CT scan showed apparent bulging of the clavarium through the partially synostosed coronal and totally synostosed squamosal sutures. Additional deformities include deficient number of ribs (10 ribs on both sides), defective ossification of the ischium and dysplasia of the iliac-ischial junction, and coxa valga have been noted. Conclusions: The constellation of observed deformities can be considered as a novel features associated with LWD.