[Congenital tibial hemimelia]. / Die kongenitale Tibiahemimelie.

BACKGROUND: The congenital tibia hemimelia, also called tibial deficiency, is a rare disorder with unknown cause, showing many associated abnormalities or varying syndromes. METHODS: The correct diagnosis can be easily established using radiographs and/or magnetic resonance imaging in the postpartum setting. However, treatment may be difficult and needs to take into consideration the given anatomic situation in the knee and ankle joint. CONCLUSION: Prosthetic fitting may be possible in mild cases. Nevertheless, the majority of patients need to undergo surgical reconstruction in order to restore a functional, mobile, and stable knee and ankle joint.

[Hip dysplasia and spinal osteochondritis (Scheuermann's disease) in a girl with type II manifesting collagenopathy]. / Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie.

OBJECTIVES: This paper describes the natural course of irritable hip pain associated with spinal rigidity and pain in the thoracic region with subsequent development of mild kyphosis in a girl with a mutation in the collagen 2 alpha 1 gene (type II collagenopathy). METHODS: Phenotypic and genotypic characterization was carried out in a 14-year-old girl to identify the underlying pathology of severe irritable hip pain associated with thoracic spinal rigidity and pain. Detailed clinical examination, skeletal survey and genetic testing were performed accordingly. Bernese periacetabular osteotomy was used to alleviate pain and to improve the anatomical correlation of the acetabular and femoral heads. RESULTS: Short stature associated with acetabulo-femoral dysplasia, spinal osteochondritis (Scheuermann's disease) and mild thoracic kyphosis were the most prominent abnormalities. Genetic analysis showed a heterozygous mutation in the collagen type II gene (COL2A1-c.1636G>A, p. G546S). A Bernese periacetabular osteotomy was performed to improve the clinical status of the patient. There was significant improvement in the extrusion index, the acetabular index and the lateral center-edge angle. CONCLUSIONS: Hip dysplasia and Scheuermann's osteochondritis have never been reported in connection with a mutation in COL2A1 (collagenopathy type II). Awareness is needed for careful phenotypic and genotypic characterization in patients with irritable hip pain and spinal stiffness.

[Congenital dislocation of the knee (CDK)]. / Kongenitale Kniegelenkluxation (CDK).

Congenital dislocation of the knee (CDK) is a rare deformity presenting itself either as an isolated idiopathic entity or in the context of syndromes like arthrogryposis, myelodysplasia or Larsen syndrome. Patients can be diagnosed clinically after childbirth based on hyperextension of the knee. Confirmation of the diagnosis is done by X-ray or sonography. Many theories concerning the pathogenesis have been proposed since CDK was described; according to recent literature fibrosis and contracture of the m. quadriceps is the most likely reason. Therapy should start as soon as possible after birth, conservatively using redressing casts or operatively in syndromal conditions aiming for reduction. The prognosis concerning re-dislocation is benign; a good outcome was shown for idiopathic CDK.

Maternal attitudes towards prenatal diagnosis of idiopathic clubfoot.

OBJECTIVES: To examine maternal attitudes towards prenatal diagnosis of idiopathic clubfoot and to determine the incidence of false-negative ultrasound examinations. METHODS: Surveys were mailed to mothers of patients with clubfoot born between 2000 and 2007 who were treated at either Sinai Hospital of Baltimore or Orthopaedic Hospital Speising. Exclusion criteria were underlying syndrome, genetic abnormality and multiple pregnancy. The survey asked the mother whether she had had any ultrasound examinations before her child was born, whether any of these had shown clubfoot, and whether she would have preferred to find out about her child's clubfoot before birth or after birth. RESULTS: Mothers completed 220 (USA, 105 surveys; Austria, 115 surveys) of 401 mailed surveys. The prenatal detection rate was 60% in the USA compared with 25% in Austria (P = 0.001). Overall, 74% of mothers indicated a preference for prenatal diagnosis and 24% indicated a preference for postnatal diagnosis of the condition. Of 92 patients diagnosed prenatally, 96% of mothers indicated a preference for a prenatal diagnosis. Of 128 patients diagnosed postnatally, 58% of mothers indicated a preference for prenatal diagnosis, 38% for postnatal diagnosis and 4% were undecided. CONCLUSIONS: The diagnosis of clubfoot is still often missed during routine ultrasound examination. When a prenatal diagnosis is made, most mothers appreciate having this information. However, when prenatal diagnosis is missed, a significant proportion of mothers seem to accept the false-negative diagnosis retrospectively.

[Complications after femoral lengthening with ring fixators in congenital femoral deficiency]. / Komplikace po prolongaci femuru kruhovým fixátorem pri vrozeném defektu femuru.

PURPOSE OF THE STUDY: Congenital femoral deficiency (CFD) is a rare and complex deformity. The results and complications of surgical correction of this deformity using ring fixators (Ilizarov/Taylor Spatial Frame) have been evaluated. MATERIAL AND METHODS: We retrospectively reviewed a consecutive series of 30 patients with CFD, between the ages of 3.3 and 17 years (mean, 9.3 years), with 35 lengthening procedures. Ten cases were treated with an Ilizarov frame, 25 cases with a Taylor Spatial Frame (TSF). RESULTS: The average lengthening at femoral osteotomy was 44.3 mm. Nine patients underwent an additional tibial lengthening by an average of 24.2 mm. The total lengthening was 50.5 mm (28-85 mm). A fracture after removal of the fixator occurred in 25.7% of the cases, and a pin-site infection with the subsequent need of operative revision was found in 8.5%. A subluxation of the knee joint was observed in 11.4% and a persistent limitation of the knee joint range of motion in 22.8%. CONCLUSIONS: Despite several complications, the use of ring fixators, especially the TSF, is an effective method for treatment of this complex deformity. The complication rate was similar with the use of either ring fixator. Some complications can be decreased with experience. The risk of knee dislocation can be reduced by joint bridging and fractures after frame removal can be avoided by prophylactic rodding.

Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome.

We describe a tall-statured 14-year-old boy who illustrated the full phenotypic and radiographic features of Stickler syndrome type I. A bone biopsy showed evidence of reduced bone mass and bone turnover, such as reduced BV/TV (-43%), TbTh (-29%), and OS/BS (-48%), Ob.S/BS (-27%), and Oc/BS (-47%) compared to "age-matched" controls. Moreover, there was evidence that the mineralization process was severely disturbed. Quantitative backscattered electron imaging revealed that the bone mineralization density distribution (BMDD) of cancellous (Cn) as well as cortical (Ct) bone was shifted toward lower mineralization compared to a young control reference cohort. BMDD parameters of mean degree of mineralization, Cn Ca (-9.8%) and Ct Ca (-18.0%), were dramatically decreased. To the best of our knowledge this is the first clinical report describing bone biopsy findings in a boy with Stickler syndrome. Such a severe undermineralization of bone matrix might essentially contribute to the compromised mechanical competence of the skeleton found in this patient.

Lesions of the lateral pterygoid muscle-an overestimated reason for temporomandibular dysfunction: a 3T magnetic resonance imaging study.

The aim of this study was to examine the lateral pterygoid muscle (LPM) parenchyma, myotendinous junction, and tendon in temporomandibular disorder (TMD) patients using 3T magnetic resonance imaging (MRI). Results were compared with findings reported in the literature, in which the LPM has been attributed a major role in triggering TMD. 3T MRI was used for temporomandibular joint (TMJ) imaging. The MRI images of 63 patients were analysed for muscle contracture and atrophy, tendon rupture, signal alterations of the tendon, tendon contrast enhancement, and peritendinous fluid collection. Descriptive statistics and the coefficient estimate method were used for statistical analysis. Focus was placed on the association between LPM tendon pathology and TMJ lesions like osteoarthritis and disc displacement. Severe lesions of the LPM tendon and muscle parenchyma, like rupture or fibrosis, were detected in very few cases. Only moderate signs of tendinosis were found in TMD patients. In contrast, there was a clear correlation between tendon lesions and osteoarthritis or anterior disc displacement. These results indicate the need to discuss and question the role of the LPM and its tendon in TMD. Data suggest that LPM and tendon lesions are part of complex degenerative changes of the TMJ, and it seems less likely that a LPM disorder is causative in TMD.

Growth modulation in idiopathic angular knee deformities: is it predictable?

PURPOSE: To evaluate the temporal and spatial sequence of events following temporal hemiepiphysiodesis in idiopathic knee varus/valgus. METHODS: This is a retrospective multicentre study on 372 physes in 206 patients. The average rate of correction (ROC) was calculated; univariate and multivariate analysis were performed. RESULTS: In all, 92% of the femoral physes were followed for more than one year/reached skeletal maturity. Of those, 93% were corrected to a mechanical lateral distal femoral angle (mLDFA) of 85° to 89°; 2% did not, while 5% were over-corrected. A total of 92% of the tibial physes were followed for more than one year/reached skeletal maturity. Of those, 92% were corrected to a mechanical medial proximal tibial angle (mMPTA) of 85° to 89°; 2% did not, while 6% were over-corrected. Factors significantly influencing success and ROC were age, direction and magnitude of deformity. Femoral ROC was significantly faster than tibial ROC: 0.85° versus 0.78°/month, respectively (p = 0.05). Femoral valgus ROC was significantly faster than varus ROC: 0.90° versus 0.77°/month, respectively (p = 0.04). A constant was derived to calculate the amount of correction. Significant correlation was found between calculated and actual mLDFA in valgus deformity during the first year (r = 0.58 to 0.87, p < 0.01). Calculated mLDFA of varus deformity did not correlate with actual mLDFA. Significant correlation was found when calculating mMPTA correction in all deformities. CONCLUSIONS: Femur corrects faster than tibia; valgus femoral deformities are corrected faster than varus. Valgus correction in the distal femur/proximal tibia as well as varus correction in the tibia in idiopathic patients is highly predictable. The constant derived is the first tool which enables predicting and monitoring amount of correction in hemiepiphysiodesis when correcting angular deformities around the knee. LEVEL OF EVIDENCE: IV.

[Peromelia]. / Peromelie.

Peromelia is a rare but mutilating congenital deformity representing failure of formation of parts of the upper limb. The deformity is presented unilaterally in the vast majority of the cases. Usually, these children are totally healthy beside from the deformity and are not seriously handicapped by the deformity. Correction of the deformity by hand- or forearm transplantation is not yet possible. Treatment consists of support with prosthesis in case of missing upper- or forearm and construction of fingers by toe-to-hand transplantation in case of missing fingers and hand. Treatment is not mandatory as the children use the stump in combination with their unimpaired upper limb for bimanual daily life activities. The mutilating aspect of the deformity frequently does impair especially parents but also the children to a higher extent than the actual functional disability. Psychological aid is recommended to support children and parents in managing their life with this severe deformity.

Guided growth: preliminary results of a multinational study of 967 physes in 537 patients.

BACKGROUND: Guided growth by tension band plating is commonly used to correct coronal plane deformity. The purpose of this study was to measure the effect and further define parameters that influence results in coronal plane deformity around the knee. METHODS: The retrospective multicentre study included data on 967 physes in 537 patients, with an average follow-up of 16 months after plate insertion. Alignment analysis was compared preoperatively and in at least two measurements postoperatively, as well as with parameters that influence the rate and amount of correction. RESULTS: Average age at plate implantation was 11.35 years (SD 3.29).Of those with femoral deformities, 85% of the patients finished the treatment and of those, 70% were corrected to standard alignment, while 14% have not yet achieved correction, and are still growing.Of those with tibial deformities, 75% of the patients finished the treatment and of those 80% were corrected to standard alignment, while 25% have not yet achieved correction and are still growing.The calculated rate of correction was 0.77°/month for the femur and 0.79°/month for the tibia.In terms of complications, the overall rate of infection was 1.48%. In three patients (0.55%) screw breakage was recorded.Factors found to significantly influence the amount of correction were age at plate implantation and direction of deformity. CONCLUSION: Temporary hemiepiphysiodesis takes the advantage of physiological physeal growth to effectively treat angular deformities. Success of treatment is influenced by the age of the patient at plate implantation and direction of deformity. LEVEL OF EVIDENCE: IV.

Clinical variables associated with the isolation of Klebsiella pneumoniae expressing different extended-spectrum beta-lactamases.

Clinical variables associated with the isolation of Klebsiella pneumoniae expressing different extended-spectrum beta-lactamases (ESBLs) were studied. Clinical records of patients with ESBL-positive K. pneumoniae isolates between 1989 and 2003 (n = 80) were reviewed retrospectively. Patients with SHV- and TEM-type ESBLs were identified more frequently in the intensive care units (67% and 78%, respectively), whereas those with CTX-M ESBLs were found in medical wards (52.2%) or were outpatients (17.4%) (p <0.01). The absence of urinary or central catheters was associated with CTX-M-10 (p 0.013 and p <0.01, respectively). Central catheter-related infections and secondary bacteraemia were associated more frequently with SHV- and TEM-type ESBLs, whereas urinary tract infections were associated with CTX-M-10. Previous aminoglycoside use was associated particularly with SHV-type ESBLs (p <0.01), whereas amoxycillin-clavulanate and oral cephalosporins were associated with CTX-M-10 (p <0.01 and p 0.050, respectively). The frequency of adequate empirical treatment was low (22%), and 61% of patients were treated according to the susceptibility testing results. Mortality (22%) and related mortality (14%) did not differ statistically according to the type of ESBL. Different ESBL types in K. pneumoniae were associated with different clinical variables, and this should be taken into account in current and future epidemiological scenarios.

[Preoperative psychoeducation for a severely traumatized child]. / Präoperative Psychoedukation bei einem schwer traumatisierten Kind.

N., an 8-year-old girl with a long term history of severe sexual abuse and maltreatment with consecutive mental disorders, was scheduled for surgery of clubfeet. The team consisting of an anesthesiologist, a psychologist and a pediatrician decided to prepare the girl for surgery without time pressure. In a first step we applied psychoeducation to obtain a certain degree of confidence. Psychoeducation is a special form of psychological treatment aiming to define cause and goal of surgery together with the patient and relatives. In a further step the anesthesiologist familiarized her with the surgical procedure and the operating theatre. Finally a careful anesthesia with a pain-free postoperative period was applied. Even extremely traumatized children can be prepared for surgery by the help of psychoeducative methods, without time pressure, a careful and pain-free anesthesia and an experienced team of doctors.

Pathomorphology and treatment of congenital anterolateral bowing of the tibia associated with duplication of the hallux.

Congenital unilateral anterolateral tibial bowing in combination with a bifid ipsilateral great toe is a very rare deformity which resembles the anterolateral tibial bowing that occurs in association with congenital pseudarthrosis of the tibia. However, spontaneous resolution of the deformity without operative treatment and with a continuously straight fibula has been described in all previously reported cases. We report three additional cases and discuss the options for treatment. We suggest that this is a specific entity within the field of anterolateral bowing of the tibia and conclude that it has a much better prognosis than congenital pseudarthrosis of the tibia, although conservative treatment alone may not be sufficient.

The Ilizarov distractor for the correction of relapsed or neglected clubfoot.

The correction of a relapsed or neglected clubfoot by an external distractor is an alternative to a major operation which may involve triple arthrodesis and is often associated with skin problems. We report the use of the Ilizarov method to treat nine severely deformed feet, with satisfactory results in terms of function and appearance. The distractor enables treatment to be applied before maturity and avoids the shortening of the foot that results from wedge osteotomies. We discuss the indications, technique, complications and results of the method.

Lengthening for congenital short femur. Results of different methods.

We have reviewed the results in 37 patients with unilateral congenital short femur (Pappas classes III to IX), treated by different lengthening procedures. The increase in the length of the femur varied from 15.6% to 142%, excellent or good results being obtained in 32 patients (86%). There was an average of 1.9 complications per case, most being seen earlier in the series when the Wagner technique was used. With the Orthofix and the Ilizarov techniques, we used callus distraction in all cases. We found that the proximal diaphysis of the congenitally abnormal femur healed less well, and we now prefer to perform corticotomy and callus distraction of the distal metaphysis. The Ilizarov method gave the best results, offering the possibilities of the simultaneous use of a Hoffmann fixator across the hip and the treatment of knee dislocation and instability.

Juvenile bone-marrow oedema of the acetabulum treated by iloprost.

The bone-marrow oedema syndrome is associated with local vascular disturbances and may be treated either conservatively or by core decompression after which recovery may take several weeks. We describe a 15-year-old girl with bone-marrow oedema of the left acetabulum which was confirmed by MRI. She presented with a four-week history of severe constant pain. Routine blood tests and plain radiographs were normal. She was treated with intravenous infusions of iloprost on five consecutive days (20 microg administered in 500 ml of sodium chloride). Iloprost causes vasodilatation with reduction of capillary permeability and it inhibits platelet aggregation. She had relief from pain at rest after three days of treatment and was completely free from symptoms after two weeks. MRI after six weeks showed almost complete resolution of the marrow oedema and was normal after four months. This is the first report of the pharmacological treatment of the bone-marrow oedema syndrome in children.

Treatment of congenital pseudarthrosis of tibia with the circular frame technique.

We treated nine patients with congenital pseudarthrosis of the tibia consecutively by a modification of the Ilizarov (circular frame) technique. Seven patients had had several previous operations, and two patients had had none. After resecting of the pseudarthrosis and the surrounding pathologic periosteum, we performed acute shortening and compression at the level of resection, together with simultaneous lengthening of the proximal tibia. Union was achieved in all cases. With this technique, not only the mechanical but also the biologic problems are addressed. As compared with other methods, the circular frame technique also offers the possibility of correcting angulation and limb length discrepancy.

Bilateral nonunited femoral neck fracture in a child with osteopetrosis.

We report a case of osteopetrosis with bilateral nonunited femoral neck and coxa vara in a 7-year-old boy. There was a history of traumatic transcervical left femoral neck fracture unsuccessfully treated by internal fixation. We performed a bilateral subtrochanteric valgus osteotomy. K-Wire fixation failed on the right side due to hardness of the bone. Finally, internal fixation with an angular plate after predrilling of the femoral neck offered stability. Bone union was achieved on both sides, resulting in full recovery of normal physical activity.

Pathology of bone lesions associated with congenital pseudarthrosis of the leg.

Congenital pseudarthrosis of the leg remains one of the most controversial pediatric entities in terms of etiopathogenesis, pathology, treatment, and prognosis. The authors reviewed the pathologic material of 24 patients with congenital pseudarthrosis of the leg along with clinical and radiographic data. The tibia was affected in 22 patients; in two patients the disease was limited to the fibula. Fifteen patients were male and nine were female. Age at surgery ranged from 1 to 26 years. Nineteen patients were classified as having dysplastic type, one cystic, and four mixed. Clinical evidence of neurofibromatosis type I (NF-I) was found in 17 patients. The main histopathologic change observed was the growth of a highly cellular, fibromatosis-like tissue. In the dysplastic type, such tissue was associated with the periosteum. In the cystic type, a closely similar tissue occupied the lytic area. In case classified as of mixed type, the coexistence of endosteal/medullary and periosteal involvement by the fibromatosis-like tissue was observed. In the cystic lesion, evidence of de novo bone formation within the lesional tissue was obvious. Overall, the histologic features of the cystic lesion were similar to those of osteofibrous dysplasia. In the dysplastic type, the proliferation of the fibrovascular tissue was associated with active osteoclastic resorption of the cortex, which remodeled into a trabecular rather than a compact type of structure. Histologic comparison of the pathologic samples of patients with and without NF-I revealed no significant differences. The pseudarthrosis gap was continuous with periosteal soft tissues and filled by fibrous tissue, fibrocartilage, and hyaline cartilage with features of enchondral ossification. The authors suggest that the clinical diversity of congenital pseudarthrosis of the leg results from the diverse location of a single pathologic process--namely the growth of an abnormal, fibromatosis-like tissue either within the periosteum or within the endosteal/marrow tissues. It is tempting to suggest that such an "osteofibromatosis" represent a skeletal expression of neurofibromatosis, either within the fully expressed syndrome (patients with known neurofibromatosis) or as isolated lesion (patients with unknown/cryptic neurofibromatosis).

Functional results at the end of skeletal growth in 30 patients affected by congenital pseudoarthrosis of the tibia.

From a multicentric study on Congenital Pseudoarthrosis of the tibia (CPT) conducted on 340 patients, we evaluated the functional results on a group of thirty patients who were at the end of skeletal growth (age < or = 16 years). The prognosis of CPT is very much related to the radiologic classification. Crawford type 2 and Crawford type 4 pseudoarthrosis have a worse prognosis, with a lower percentage of fusion at the site of pseudoarthrosis. Crawford 4 patients have the worst functional results. Most of them showed a severe leg length discrepancy, needed a permanent brace, with an ankle joint function fair or poor. The presence of fibula pseudoarthrosis seems to be responsible for most of the worst functional results. The level of deformity caused by either the natural course of the disease or its treatment, is decisive in the evaluation of the functional results.