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Diastrophic dysplasia

Diastrophic dysplasia is a disorder of cartilage and bone development. It is inherited in a autosomal recessive pattern and affects about 1 in 100,000 births. more...

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Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility. This condition is also characterized by an inward- and downward-turning foot (called clubfoot), progressive curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth called a cleft palate. Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis, type 2. Diastrophic dysplasia tends to be less severe, however.

Mutations in the SLC26A2 gene cause diastrophic dysplasia. Diastrophic dysplasia is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, but in adulthood this tissue continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

This article incorporates public domain text from The U.S. National Library of Medicine

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FOOT/ANKLE - MISCELLANEOUS
From Journal of Bone and Joint Surgery, 1/1/04 by Schwering, L

O3401 OPERATIVE TREATMENT OF TRUE VERTICAL TALUS

L. Schwering.

Orthopaedic Department of University of Freiburg, Freiburg, Germany

Aims: True vertical talus isn't to be treated successfully by conservative means alone. Untreated deformities may lead to unability of walking. The aim of the study was to evaluate the outcome of the operation described by Duckworth and Tachdjian in our patients. Methods: During 1975 until 2001 71 feet in 43 patients were operated on. The way of operation was described by Duckworth and Tachdjian. The mean age at the time of operation was five years. The coilectiv consists from 24 boys and 19 girls. Characteristics of the operation were arthrolysis and reposition of the talonavicular joint, lengthening of the achilles tendon and transposition of the anterior and posterior tibial tendon. The results were evaluated prae- and postoperative by the Walker-Score and by an adittional questionare. Results: All in all 51 feet of 30 patients could be examined by clinical investigation and radiographs. The follow up was eigth years postoperative in mean. Fourteen obstacles were counted. Ten feet had addittional operative treatment later on. The evaluation by the Walker-Score counted a very good result in 13 feet, a goog in 22. an average in 13 and a poor result in three feet. From the questionaire 16 patients were very content, 36 content. 6 little content and three discontented. Conclusion: the results correlate in the procentual distribution with those described by Duckworth (n=19). Idiopathic deformities reached a higher score ( 14,6). Unfortunately the patients were presented to the surgeon late so that an early intercention was prevented. One may conclude that early intervention would result in a better outcome

O3402 RECURRENT CLUBFEET IN SYNDROMES. THE USE OF ILIZAROV FRAMES WITH TALECTOMY- A REVIEW OF 8 CASES (10 FEET) - 7.25 YEARS FOLLOW UP

M. Bhat, M.L. Laverick.

Musgrave Park Hospital, Belfast, UK

Aims: To assess the long term results of correction of recalcitrant club feet in syndromes such as Arthrogryposis and Spina Bifida after combining talectomy with the application of Ilizarov frame. Methods: 8 patients (10feet) with syndromes including Arthrogryposis. Spina Bifida and Diastrophic Dysplasia were followed up at 7.25 years (1-10) years following application of Ilizarov frame. The mean age was 19.5 (10- 29) years at follow up and there were equal number of males and females. These patients presented with recurrent and resistant clubfeet with 3.8 (1-6) procedures per foot, done prior to Ilizarov frame application. Talectomy was done before frame application in 5 feet, simultaneously in 4 feet and following frame in 1 foot. All 10 feet were talipes Equinovarus. Results: 8 excellent. 1 good and 1 fair result. All patients are now pain free, none require more than daytime AFO splints (with a much improved tolerance), none have major skin problems. All patients/parents described their feet as 'far better' or 'better' and all would readily submit to the same procedure again if necessary. Conclusion: In properly selected complex cases with syndromes, talectomy combined with frame can produce more excellent and good results with long lasting correction.

O3403 MAGNETIC RESONANCE IMAGING ON PAIN IN POSTERIOR ASPECT OF THE ANKLE IN BALLET DANCERS

E. Hiraishi. S. Ogawa. H. Sakihara, T. Honma, S. Yasui, T. Ieda.

Department of Orthopedic Surgery, Eiju General Hospital, Tokyo, Japan

Aims: To clarify correlation between magnetic resonance imaging (MRI) and pathology of pain in posterior aspect of the ankle in ballet dancers. Methods: Twenty feet of fifteen patients, who underwent surgery with the average age of 19.2 years, were retrospectively analyzed. They were diagnosed as flexor hallucis longus (FHL) tendon injury or posterior ankle impingement (PAI) syndrome mainly based on physical signs. MRI findings of FHL tendon were classified with the classification of posterior tibial tendon dysfunction presented by Conti et al., and were compared with macroscopic changes of the tendon. FHL injuries were classified as follows; paratendinitis as grade-1. superficial injury (

O3404 COMPARATIVE STUDY BETWEEN ANKLE AND CALF TOURNIQUET

N. Aslam, C. Pasapula.

Milton Kevnes General Hospital, Milton Kevnes, MK1 5BD, United Kingdom

Introduction: The use of lower limb tourniquets is routine in lower limb surgery. Several methods have been used often based on surgical preference. Aim: To establish the pain quality in patients undergoing forefoot surgery with the tourniquet placed at the ankle and the calf. Method: A prospective randomised trial was undertaken. Assessment of peri-operative and postoperative pain in 30 patients undergoing forefoot surgery under local anaesthetic was undertaken. All calf and ankle tourniquets were inflated just before surgery. Patients were concealed randomised to either midcalf or ankle tourniquet. Cuffs were inflated to 100 mm Hg above the systolic pressure. Pain and pulse were measured preoperatively and at 5 minutes. 10 minutes and at 10-minute intervals. We also assessed the quality of the field. Results: Both the tourniquet positions gave very good fields however the use of the ankle tourniquet was far less painful at 5.10,20 and 30 minutes after the operation started p

O3405 MORBIDITY OF THE ANTERIOR ILIAC CREST BONE GRAFT

Daniel Farber, J. DeOrio.

Mayo Clinic, Jacksonville, FL, USA

Aims: Bone graft substitutes have been advocated recently to avoid the potential morbidity associated with harvest of autogenous iliac crest graft. However, no commercially available graft equals autogenous bone osteo-inductive and osteoconductive qualities. We reviewed our patients' morbidity after harvest of 240 anterior iliac crest bone grafts for procedures involving the foot and ankle. Methods: A computerized analysis of patient records was undertaken to identify all patients undergoing a unique unicortical iliac crest bone graft harvest over a 10-year period from the senior author's practice. All patients were contacted either by phone or mailed questionnaire inquiring about the post-operative morbidity of the procedure. Charts were reviewed for any related complications. Results: 200 patients were available for follow-up (range 1 to 10 years). Of these patients 98% were satisfied or very satisfied with their hone graft harvest. 10 patients complained of minor residual numbness lateral to the harvest site. None complained of problems with ambulation related to graft site pain. 7% reported that their graft site pain was greater than their operative site pain during the post-operative period. 95% of patients' pain resolved within 4 weeks of the operative procedure. No patients incurred extra hospital days as a result of the bone graft harvest. No deep infections occurred, although there was a 6% incidence of postoperative hematoma/seroma. Conclusions: Despite common sentiment, harvesting of autogenous iliac crest bone graft yields minimal morbidity, no extra hospitalization, and optimal bone graft material at similar or lesser cost than bone graft substitutes while being overwhelmingly acceptable to patients. Bone graft substitutes may not be as cost-effective as currently thought.

O3406 ANTHROPOMETRIC STUDY ON SHOE-WEARING AND NON-SHOE WEARING POPULATIONS

S. Kadambande, K. Hariharan.

Royal Gwent Hospital, Newport, United Kingdom

Aims: To assess the difference in muscle function and pliability between shoe wearing and non shoe-wearing feet. Methods: Using a basic force gauge, force of extension and flexion at 1st metatarsophalyngeal joint, abduction at 5th metatarsophalyngeal joint and adduction between 1st and 2nd toe was measured on the right foot of 100 (50 male and 50 female) randomly selected human population. They had normal body-mass index and age between 25 to 35 years. People with previous injury or disability to the right lower extremity were excluded. Measurement on non-shoe wearing population was carried out on Indian population. Measurements on shoe-wearing population were carried out on the British population. Maximum length and breadth of full weight bearing and non-weight bearing foot was measured. Pliability Ratio of weight bearing length and breadth of the foot by the non-weight bearing length and breadth of the foot was calculated. Results: There was no statistically different muscle force in the small joints of the feet. Pliability ratio showed that the shoe wearing feet were stiffer than non-shoe shoe wearing feet. Conclusions: Shoe wearing does not affect the intrinsic foot function. It may result in slightly stiffer feet. This can result in improper distribution of force while weight bearing Pediatric hip

03411 OUTCOMES OF OPEN REDUCTION OF DISLOCATED HIPS IN CHILDREN WITH SPASTIC QUADRIPLEGIA

A. Rehm2, S. Purkiss 1, B. Alman1, J. Wedge1 .

The Hospital For Sick Children, Toronto, Canada1 ; Kent & Canterbury Hospital, Canterbury, England2

Aims: The purpose of this retrospective study was to determine if open reduction, with pelvic and femoral osteotomy, for a dislocated hip in children with severe spastic quadriplegia alters the function or symptoms of the patient and to determine radiographie factors that correlate with sypmtoms. Methods: The validated Pediatric Evaluation of Disability Inventory (PEDI) and a self-constructed questionnaire asking about pain, hygiene, sitting status and ambulatory status were sent to the caregivers of 52 patients who were operated on. Radiographs were reviewed for changes in centre edge angle, acetabular index, migration index and femoral head defect. Results: 27 caregivers completed the questionnaires. Complete pre-operative radiographs and radiographs from latest follow-up were available in 42 patients and complete radiographs and completed questionnaires were available for 21 patients. The average age at surgery was 9 years with a mean follow-up of 5.5 years. The results of the PEDI did not change significantly following surgery. The second questionnaire showed an improvement of hygiene care for 11 patients, weight bearing for transfers for seven, sitting status for 10 and sitting tolerance for 18. Pain improved for 17 and deteriorated for two patients. There was no correlation between radiographie measures and function or symptoms. Conclusions: Open reduction with pelvic and femoral osteotomy for dislocated hips in children with severe cerebral palsy can result in a decrease in pain and a modest improvement in function.

03412 PROPOSAL OF NEW METHOD OF RENTGENOMETRICASSESSMENTOFHIP JOINT FORMATION AFTER PERTHES'S DISEASE

J. Czapinski. A. Wall, W. Orzechowski, Sz. Dragan, A. Krawczyk.

Orthopaedic Clinic of Wroclaw Medical University, Poland

Aims: The aim of the paper is evaluation of hip joint formation after Perthe's disease treated conservatively as well as estimation of diagnostic value of self-elaborated trochanter-head (T-H) and radius of head (R-H) coefficients, in relation to Heyman-Herdon's and Klisic's methods. Methods: Hip joint radiograms of 33 persons after Perthes's disease were underestimated, mean 9.23 years after termination of treatment. Measurements performed accordingly to Heyman-Herdon's and Klisic's methods and T-H and R-H coefficients were referred to sex. age of the patient at the moment of start of treatment. Catterall groups. Cattcrall risk factors and side of necrosis appearance. Results: Since lesser trochanter is left intact in course of the disease, it was assumed as point of reference for self-elaborated T-H and R-H coefficients, which were measured in A-P and axial projection. Statistic analysis of rentgenmetric methods revealed positive correlation between T-H coefficient and H-H method as well as between R-H coefficient and Klisic's method. Conclusions:Time consuming Heyman-Herdon's and Klisic's methods of estimation are burdened with high measuring error. Used self-elaborated coefficients are easy to trace and calculate, and measurements are precise. Above coefficients are repetitive irrespectively of patient age and multiplanar, hence allow for more precise estimation of hip join! deformities after the treatment than used up to present H-H and Klisic's methods.

03413 PROGNOSTIC VALUE OF HERRING'S CLASSIFICATION OF PERTHES DISEASE

Stefanovska Ivanka.

Depanmenl for Orthopaedic Surgery, Medical Faculty-Skopje, Macedonia

Aims: The aim of the study is to evaluate the prognostic value of Herring's classification for treatment planning and predicting the final outcome of the disease. Methods: Wc analysed 45 patients treated in our department in the period between 1992 - 2000. The analysis consisted of determining the lateral pillar collapse in fragmentation stage and the containment of the femoral head in the residual stage. We did retrospective analysis of the x-rays in fragmentation stage and classified the patients according to Herring classification. Group A included 10 patients, group B - 20 patients and group C included 15 patients. For analysis of the x- rays in residual stage we used Hayman - Herndon Acetabulum - Head Index (AHI).The statistical analysis of the results included the analysis of the differences between the lateral pillar collapse among the groups and the differences between affected hip and the contralateral control hip. Correlation between the degree of lateral pillar collapse and the AHI in the residual stage was also analyzed. Correlation between the age of onset of the disease and AHI was determined for each group, too. Results: The results show significant differences between the lateral pillar collapse in Herring groups, and among the affected and control hips. Differences of AHI values were also significant between the groups. Correlation between the AHI and lateral pillar collapse for each group shows moderate connection just as the one between AHI and age. Conclusions: Herring's classification is reliable in classifying patients with Perthes disease. It enables good prediction of the natural course of the disease and thus influences the treatment decision-making.

O3414 THE POTENTIAL INFLUENCE OF I-PARATHYROID HORMONE ON THE DEVELOPMENT OF SLIPPED CAPITAL FEMORAL EPIPHYSIS IN ADOLESCENTS

K.A. Papavasiliou, O.A. Kapetanos, J.M. Kirkos, T.A. Beslikas, V.A. Papavasiliou.

2nd Orthopaedic Dept., Aristotle University of Thessaloniki, Greece

Aims: In order to assess the potential pathologic influence of any Parathyroid Hormone (PTH) disturbances on the development of Slipped Capital Femoral Epiphysis (SCFE) during adolescence, we conducted a prospective clinical study. Methods: Nineteen patients in total were included in the study. Fourteen patients. 7 boys and 7 girls (16 hips), suffering from SCFE during the proceedings of this study, formed group W. Another 5 patients that had been treated for SCFE a few years before the study, were used as a control group (group 'B'). We measured the level of 1-PTH. along with serum Calcium (Ca) and Phosphorus (P) levels. Furthermore we checked all the necessary anthropometrical characteristics of the patients (age, height, weight and sexual maturation). Each patient of group 'A' was categorized from grade 1 to grade V according to the progress of the slipping. Results: An increased incidence (9 out of 14 patients), of serum PTH level abnormalities (both decrease and increase) in group 'A' was detected. Group 'B' patients had normal results. It is interesting that the detected I-PTH serum level abnormalities were not in any pattern related to the Ca and P serum levels. Conclusion!»: We believe that a temporary Parathyroid Hormone disorder or imbalance (along with others etiologic factors) during the early years of adolescence, may play a potentially significant role in the development of SCFE.

O3415 COMPARISION OF DIFFERENT TYPES OF INTERTROCHANTERIC CORRECTIVE OSTEOTOMY IN caseS OF SLIPPED CAPITAL FEMUR EPIPHYSIOLYSIS (SCFE) BASED ON CT ANALYSIS

T.C. Mamisch. J. Kordelle, J. Richolt, R. Seibel, R. Forst, R. Kikinis.

Dept. of Orthopedic Surgery, University of Erlangen, Germany, Surgical Planning Laboratory, Harvard Medical School, Boston, USA

Aim: Can comparable results be obtained regarding the postoperative improvement of range of motion using flexionosteotomy alone in comparison to the three-dimensional corrective osteotomy. Material and Methods: 16 patients after SCFE were analyzed (7 female, 9 male). A computer program for simulation of movement and osteotomy developed by the authors, served for study execution. According to 3D-reconstruction of the computer tomography data the physiological range was determined by flexion, abduction and internal rotation. The three-dimensional osteotomy was compared with the onedimensional flexionosteotomy. Both intertrochanteric osteotomy techniques were simulated and the improvements of the movement range were assessed and compared. Results: The average slipping and thus correction angles measured inferior 25.5° (range: 7.5°-51.0°) and posterior 52.0° (range: 29.0°0 -78.5°). After the simulation of osteotomy by Southwick the angle of flexion was 61.3° (improvement: 41.4°), of abduction 60.3° (improvement: 42.9°) and interior rotation of 70.1° (improvement: 52.6°).The flexionsosteotomy after Griffith achieved a flexion of 66.7° (improvement: 46.8°). an abduction of 41.1° (improvement: 23.7°) and an internal rotation of 57.4° (improvement: 40.0°). Conclusion: The improvement of the free movement range after flexion osteotomy is comparable, with three-dimensional osteotomy after Southwick with the exception of the abduction angle.

03416 MID-TERM RESULTS OF SLIPPED CAPITAL FEMORAL EPIPHYSIS (S.U.F.E.) THE COLOGNE THERAPY PATTERN

E. Nagel, J. Rütt, D. Schmitz, P. Eysel.

Klinik und Poliklinik für Orthopädie der Universität Köln

Aims: From 1990 until 2000 62 patients with S.U.F.E. were treated with the cologne treatment pattern (dynamic screw fixation on both sides with lateral growth reserve). We intended to investigate the medium-term subjective and objective results of this method in comparison to the usual form of treatment with osteosynthesis using Kirschner wires. Methods:The patients answered a questionnaire followed by a clinical and radiological examination. Results: 30 patients could be reexamined. We found 26 patients with good and very good results in the subjective evaluation. The lateral outclass caused only problems when the growth reserve was used up. The clinical investigation confirmed the subjective results: Free range of motion in 25 children. The radiological examination showed normal formed femoral heads and CCD angels. Conclusion: We can show that this therapy pattern has very few complications in comparison with the with K-wires- fixation. In literature the motion of the wires and the possible infection of the soft tissue were often described. The dynamic- screw -system allows a very simple change of the screw, when the reserve of growth is used up.

03417 PROSPECTIVE STUDY OF UPPER FEMORAL OSTEOTOMIES USING 'FIXCLIPS?'BIOLOGICAL INTERNAL FIXATOR IN CEREBRAL PALSY

R.Vadivelu 1, A.S. Baker, J. Clegg1.

1 Coventry and Warwickshire Hospital, Coventry, UK; Northampton General Hospital, UK

Aim: Prospective study to evaluate the results and the technique of 63 proximal femoral osteotomies in 39 cerebral palsy patients performed with the new Fixclip(TM) biological internal fixator system. Methods: Thirty nine cerebral palsy patients with dislocated or painful subluxing hips, who underwent upper femoral osteotomy from 2 different centres in the last 7 years were included in the study. Results: The average age of patients at operation was 12.7 years (range 3-60 years). All the patients were followed up until union. Some had removal of the implant. Postoperative splintage was normally used when soft tissue procedures were performed along with femoral osteotomy. Three patients needed revision surgery for readjustment of the device and 2 patients had superficial infections. All osteotomies healed by 12-16 weeks apart from one. There was no malunions, or avascular necrosis. One patient had a non-union that united after revision surgery. Conclusion: The Fixclips system is modular and easily adjustable. The system lies off the bone with minimal disturbance to the periosteal blood supply. Compared to other implants, Fixclips are biologically and mechanically very effective with low complications and well suited in cerebral palsy patients where rigid fixation can cause extensive loss of bone mass. This is the first study reporting the use of 'Fixclips' system for upper femoral osteotomy.

Copyright British Editorial Society of Bone & Joint Surgery 2004
Provided by ProQuest Information and Learning Company. All rights Reserved

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