Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

Genetic causes of skeletal disorders are manifold and affect, among others, enzymes of bone and connective tissue synthesis pathways. We present a twelve-year-old boy with a mild skeletal dysplasia, hypermobility of joints and axial malalignment of lower limbs and feet. Exome sequencing revealed a biallelic loss of function mutation in CSGALNACT1, which encodes chondroitin sulfate N-acetylgalactosaminyltransferase 1 and plays a major role in the chondroitin sulfate chain biosynthesis and therefore in the synthesis of glycosaminoglycans. Recently, the first case of a pediatric patient with a mild skeletal dysplasia due to a compound heterozygous large intragenic deletion and a damaging missense variant in CSGALNACT1 was reported. We here identify a second case and the first juvenile patient with a homozygous frameshift variant in CSGALNACT1 which corroborates its role in mild and non-progressive skeletal dysplasia with joint laxity.

[Comparison of the treatment of slipped capital femoral epiphysis with K-wires and cannulated titanium screws]. / Vergleich der Therapie der Epiphyseolysis capitis femoris mit Kirschner-Drähten und kanülierten Titanschrauben.

AIM: The treatment of slipped capital femoral epiphysis (SCFE) is usually treated operatively, but there is still no consensus about the method to be used. Up to a 30 degrees degree of slipping, the epiphysis is normally fixed in situ. The aim of our study was to compare the intermediate results after fixation in situ by K-wires versus cannulated titanium screws (Königsee-Implantate, Königsee-Aschau, Germany). METHODS: In this study 46 patients with SCFE grade I and II and mostly chronic slipping of the epiphysis were included. After fixation in situ and, if necessary, careful, closed reposition, the patients were clinically and radiologically followed-up for one year. The clinical results were documented by the score adapted from Heyman and Herndon. Furthermore, MRI scans were done to evaluate the vitality of the epiphysis pre- and postoperatively, when titanium screws were used. RESULTS: Clinical follow-up showed comparable results in the clinical scores after fixation by K-wires or cannulated titanium screws (3.13 +/- 1.02 vs. 3.10 +/- 1.01). After the treatment with titanium screws we saw a higher rate of abnormal gait (33.3 % vs. 19 %), a decreased rate of the positive Drehmann sign (10 % vs. 38 %) and a lower rate of revisions (16 % vs. 50 %) in comparison to K-wire fixation. After displacement of the K-wires we saw chondrolysis and prearthrosis in one case. Removal of the K-wires was done without any complications, while the removal of the cannulated titanium screws failed in 4 of 10 cases. CONCLUSION: The treatment of SCFE with K-wires and cannulated titanium screws showed comparable results in the clinical follow-up. The treatment with cannulated titanium screws reduces the number of necessary revisions, but the removal of the material is hindered. Because of the lower rate of complications we prefer in the meantime the use of cannulated steel screws.

Evaluation of femoral head vascularization in slipped capital femoral epiphysis before and after cannulated screw fixation with use of contrast-enhanced MRI: initial results.

In this study we used contrast-enhanced magnetic resonance imaging (MRI) to evaluate the vascularization of the femoral head in children with slipped capital femoral epiphysis (SCFE) before and after cannulated screw fixation. Eleven consecutive children with SCFE, seven boys and four girls, aged 10-15 years were included in the study. There were no preslips; four children had acute, three acute-on-chronic, and four chronic SCFE. The MRI examinations were performed in a 1.5 Tesla MR scanner with use of a coronal STIR sequence, a coronal contrast-enhanced T1-weighted spin-echo sequence, and a sagittal three-dimensional gradient-echo sequence. Morphology, signal intensities, and contrast-enhancement of the femoral head were assessed by two radiologists in consensus. Morphologic distortion of the physis, bone marrow edema within the metaphysis and epiphysis, and joint effusion were the preoperative MRI findings of SCFE in each child. In nine children, the vascularization of the femoral head before and after surgery was normal. In one child, a preoperative avascular zone in the superolateral aspect of the epiphysis revascularized completely after surgery. One child with severe SCFE developed avascular necrosis of the femoral head after open reduction of the slip. We conclude that MRI allows for accurate evaluation of the femoral head vascularization before and after surgery in children with SCFE.

[Teutschländer disease. A rare benign differential diagnosis of proliferative space-occupying lesions in the periarticular soft tissue]. / Morbus Teutschländer. Eine seltene benigne Differenzialdiagnose proliferativer Raumforderungen im paraartikulären Weichteilgewebe.

The tumoral calcinosis (synonym: Teutschländer disease) is a very rare benign metabolic dysfunction of unknown etiology. It manifests principally as massive subcutaneous soft tissue deposits of calcium phosphate near the large joints and is also characterized by slow progressive growth. Causally, a disturbance of the calcium and phosphate metabolism/balance with, among others, autosomal dominant heredity is suspected. It appears frequently in the black African population in all age groups, but preferentially in the 1st and 2nd decades of life. Medical help is most frequently sought because of increasing tumor size causing displacement and consecutive pain as well as decreased joint play. We present here a case of Teutschländer disease in a 50-year-old woman on long-term hemodialysis and describe the clinical, radiological, and pathological signs of this rare disease. Subsequently, speculative etiology, differential diagnostic considerations as well as the therapeutic interventions for tumoral calcinosis are discussed taking into consideration the current literature.

[Can an insufficient posture of children and adolescents be verified instrumentally?]. / Ist die Haltungsschwäche von Kindern und Jugendlichen instrumentell verifizierbar?

UNLABELLED: 144 children aged 6 to 17 years were examined with the Lasar-Posture device which raises a perpendicular through the centre of gravity. To make an indirect postural examination possible and to classify posture, the courses of the gravity perpendicular, the shoulder centre, the greater trochanter femoris and the lateral ankle and their change during the Matthiass' test were determined. Additionally, spinal alignment, spine flexibility and the sufficiency of posture were assessed. RESULTS: The ability to achieve a sufficient posture correlated with age (p = 0,0004). The spinal alignment itself did not differ in the age groups but the hollow-round back showed a decreased ability to attain a sufficient posture (p < 0.0001). The spine flexibility measured with the Ott's test decreased with age (p = 0.0001). In relation to the gravity perpendicular, the shoulder centre moved forward with increasing postural insufficiency (p = 0.0379). The course of the gravity perpendicular did not differ in the different types of spinal alignment but was always found in front of the lateral ankle. The greater trochanter of the children with a II degrees insufficiency at the beginning (p = 0.03/0.01) and end (p = 0.2/0.05) of the Matthiass' test was always in front of the gravity perpendicular in contrast to the other children. As expected, the shoulder centre was always behind the gravity perpendicular. It was found to be more ventral in healthy children than in those with a postural insufficiency (p = 0.01/0.004/0.005). CONCLUSION: Overall, a high rate of children with postural insufficiency was found. It is impossible to determine or classify them with the Lasar-Posture device. The future aim should be to develop a measuring technique that allows a standardised definition of posture and age related developmental variants.

[Relationship of an increased internal rotation of the hip with pelvic tilt, spinal alignment and posture - does the so-called antetorsion syndrome exist?]. / Zusammenhang der vermehrten Innenrotation im Hüftgelenk mit einer verminderten Beckenaufrichtbarkeit, der Rückenform und Haltung bei Kindern - Gibt es das so genannte Antetorsionssyndrom?

AIM: A cross-sectional study of pupils should show a possible relation between hip movement, posture and spinal alignment. METHODS: 143 children aged 6 to 17 years were clinically examined with particular respect to internal rotation and extension of the hip, spinal alignment and posture to determine if the so-called antetorsion syndrome exists in children as a remnant of the uprising of man. RESULTS: Internal hip rotation decreased with age without any difference regarding the age between children with and without hip contracture. Children with hip flexion deformity had a significantly higher ability for internal hip rotation (p = 0.0471), but both hip extension and internal rotation were not related to spinal alignment (p = 0.5585/0.5612). On the other hand a normal posture is related with a "normal" back and age (p = 0.0004). The spinal alignment itself did not differ in the age groups. 30 % of the children with sufficient posture and 38 % of the ones with insufficient posture had a hip contracture. The latter showed an increased internal hip rotation by 12 degrees (p = 0.0079). CONCLUSION: On the basis of these results, a relationship between muscular performance, neuromuscular maturity, decreased hip extension and increased internal hip rotation can be assumed. This so-called antetorsion syndrome exists in 20 % of the examined children. A relation to the spinal alignment especially the hollow-round back, cannot be found.

Heterotopic ossification in childhood and adolescence.

Heterotopic ossification, or myositis ossificans, denotes true bone in an abnormal place. The pathogenic mechanism is still unclear. A total of 643 patients (mean age, 9.1 years) admitted for neuropediatric rehabilitation were analyzed retrospectively with respect to the existence of neurogenic heterotopic ossification. The purpose of this study was to obtain information about incidence, etiology, clinical aspect, and consequences for diagnosis and therapy of this condition in childhood and adolescence. Heterotopic ossification was diagnosed in 32 patients (mean age, 14.8 years) with average time of onset of 4 months after traumatic brain injury, near drowning, strangulation, cerebral hemorrhage, hydrocephalus, or spinal cord injury. The sex ratio was not significant. In contrast to what has been found in adult studies, serum alkaline phosphatase was not elevated during heterotopic ossification formation. A persistent vegetative state for longer than 30 days proved to be a significant risk factor for heterotopic ossification. The incidence of neurogenic heterotopic ossification in children seems to be lower than in adults. A genetic predisposition to heterotopic ossification is suspected but not proven. As a prophylactic regimen against heterotopic ossification we use salicylates for those patients in a coma or persistent vegetative state with warm and painful swelling of a joint and consider continuous intrathecal baclofen infusion and botulinum toxin injection for those patients with severe spasticity. We prefer to wait at least 1 year after trauma before excision of heterotopic ossification.

Computer-assisted assembly and correction simulation for complex axis deviations using the Ilizarov fixator.

In axis correction with the Ilizarov ring fixator, the correction results are often insufficient or there are unexpected translation effects, which can be causally attributed to wrong preoperative planning or inaccurate assembly. To avoid such results, computerised simulation was developed. Via digitalisation of the bone outlines traced from X-radiographs with an additional scale, preoperative correction planning can be performed, simulated with normal software. This can be used while constructing the apparatus and positioning the joints. In addition, the translation effect of the bone fragments can be simulated by arbitrarily choosing the pivot of the correction. In transferring the X-radiograph true to scale, one can compare the ring planes before and after correction. It is possible to estimate the necessary distraction as well as compression and thus the postoperative distraction mode. Using computerised planning, the apparatus construction can be optimised and complications caused by misplanning avoided. Not only the inexperienced user can benefit from this aid.