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Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
Trigonocephaly mostly occurs in isolated synostosis of the metopic suture, but 10-20% of patients are affected by complex syndromes, and in 2-5% the condition is familial. Intracranial hypertension has been observed in a minority of cases, but is never severe. Surgery is performed mainly for cosmetic reasons, following the standard principles of craniofacial surgery. Complications are rare and satisfactory cosmetic results are generally obtained. There is little likelihood for recurrent deformity.
In 1984, two young infants with unusual "clover-leaf" patterns of skull deformity were treated by posterior skull-releasing surgery that dramatically improved their overall skull shape, to the extent that further operative intervention was not required. This focused our attention on the posterior skull and its role in craniosynostosis. In cases of multi-suture craniosynostosis and craniofacial syndromes severely raised intracranial pressure is frequent, demanding early surgery. One of the problems identified with such surgery undertaken before 6 months of age is recurrent craniosynostosis needing later re-operation. This occurred in 15 (5%) of 275 patients treated between 1978 and 1994. Since 1986, in the presence of significant raised intracranial pressure it has been our policy to do an initial posterior skull release or decompression. This takes the pressure of the growing brain away from the orbits, allowing us to defer fronto-orbital advancement until the age of 12 months or later. Three patients managed in this way completely avoided anterior surgery, while in another 9 patients re-operation for recurrent anterior deformity has not been required. The exception to this policy has been the presence of severe exorbitism posing a threat to vision. Under these circumstances early fronto-orbital advancement is mandatory, and an additional posterior skull release may be helpful later. Debate continues especially on the management of unilateral lambdoid synostosis. The recent increase in positional posterior plagiocephaly. possibly related to supine nursing of newborns, has emphasised the need to differentiate between a fixed deformity, which might require surgical correction, and positional moulding of the occiput, which improves spontaneously. This paper reports our experience with 22 patients treated by posterior skull surgery, either alone or as an additional procedure, which we believe has a definitive role in the management of craniosynostosis.
The present paper describes an experimental model where union was delayed in an osteotomy gap of the rabbit fibula by means of a silicone rubber spacer during 48 days. After the silicone spacer had been removed, electrical transistor regulated direct current of 20 microampères delivered through stainless steel electrodes was used to stimulate osteogenesis on the right side during 62 days. On the left side a sham operation inserting stainless steel electrodes without current was performed. In one out of six animals overbridging callus was received on the stimulated side. In the rest of the animals a high frequency of synostoses between the fibular ends and the tibia was found. There was no significant difference in synostosis formation between the right and the left side. No adverse effect of the current could be detected histologically.
The stability of external distance osteosynthesis for complete tibia and femur defects rests solely on the rigidity of the external support. The rigidity of the external support is an function of the mechanical data of its individual elements, of the hold between the bone and the other system, as well as of the individually optimized construction form. The response of an osseous contact area which is not resistant to compression when external osteosynthesis is applied is mechanically similar to the response to distance osteosynthesis in the presence of a defect. The basic application rules for distance osteosynthesis of the lower limbs are given. The symmetric frame fixator applied in a three-dimensional arrangement is indicated for tibia defects. External distance osteosynthesis of femur defects can only be recommended when plate osteosynthesis alone or plate osteosynthesis in conjunction with a bracket fixator are out of the question. The various application forms for external osteosynthesis of femur defects are described and their indication with respect to knee function given. Although none of the construction forms for defects in the tibia and especially in the femur can eliminate mechanical interfragmental movement of the main fragments, their clinical use has been successfully established; however, surgical and osteoplastic measures must ensure more and more biological stability with time. The necessary surgical techniques and procedures are described. Whereas even extensive defects of the femur can be bridged exclusively with autologous cancellous bone, varied measures are required for the lower leg, depending on the various individual conditions. Should the direct bridging of the main tibia fragments not be appropriate, fibular-tibial synostosis is necessary. The various options for such fibular-tibial osteoplasty which may be required, depending on the individual case, are described.
An unusual structural rearrangement of the Y chromosome resulting in seven different cell lines was found in a male infant with coronal synostosis as the only major clinical symptom. At least three different events must have occurred to explain the patient's karyotype: nondisjunction, chromosome breakage followed by translocation, and tetraploidization followed by somatic recombination. In addition, the structurally abnormal Y chromosome appeared to be unstable in vitro.
Three generations of a family manifest similar skeletal abnormalities: proximal symphalangism with several unusual features, metacarpophalangeal synostoses, massive tarsal and carpal fusions and abnormalities of the elbows (radial head dislocation, radiohumeral synostosis). Two members of this family were previously reported by Pearlman et al. as examples of the Nievergelt syndrome, but the affected individuals lack the mesomelic dysplasia that is an integral part of that entity. Moreover, the Nievergelt syndrome does not include symphalangism. The term "Nievergelt-Pearlman syndrome" should be dropped.
Craniosynostosis affects approximately one infant out of one thousand. Increase of intracranial pressure and risks of functional problems are more frequent than previously thought, especially in single-suture synostosis. Frontocranial remodeling will correct both functional and esthetic consequences of craniosynostosis. The best time for surgery is the first year of life, 2-3 months of age for the brachycephalies, and 6-9 months of age for the other craniosynostoses. Not only does growth not deteriorate after forehead remodeling, but the adjacent orbitonasal areas improve with time. In Crouzon's disease and Apert's syndrome, early frontal advancement does not prevent the midface retrusion, and a radical frontofacial advancement may be occasionally indicated in very severe cases. Frontocranial remodeling is also indicated in children presenting with sequelae of classical neurosurgical treatment or those who have had no treatment.
After many years of experience, in general we prefer the Nd-YAG laser, although the CO2 laser is an advantage in a few specific cases (lipomas, cranial synostosis). While the focused CO2 laser may be used as a cutting instrument in less vascular tissue with little trauma to the surroundings, the Nd-YAG laser produces a homogeneous coagulation with an energy dependent depth effect. Thus, with the Nd-YAG laser residual tumour tissue can be selectively and with a predictable depth effect thermally destroyed. Because of its excellent coagulation property, the use of the Nd-YAG laser is particularly indicated in highly vascular meningeal tumours. The shrinkage of a tumour and its demarcation which is due to the varying absorption properties facilitates the dissection and allows in addition the preservation of normal tissue.
A girl, born after in vitro fertilisation to a 39-year-old primi-para, had congenital craniofacial synostosis, gyrated skin and ventriculomegaly together with other minor anomalies. This is the sixth patient with the Beare-Stevenson syndrome. The disorder is discussed together with other congenital overgrowth syndromes.
Craniofacial deformities are primarily caused by premature synostosis of cranial sutures. Depending on the involved sutures, typical deformities of the neuro- and visceral cranium are produced. They result in severe functional and aesthetic disturbances. Several osteotomies, which do not only make an aesthetic improvement possible but a correction of severe malfunction, are available for therapy. Preoperative planning and postoperative treatment require the combination of orthodontics and maxillofacial surgery.
The radiographs of 230 children who had undergone neonatal surgery for imperforate anus and/or esophageal atresia/tracheoesophageal fistula were reviewed. Of the 31 children with limb anomalies thus detected, the 24 who had no radiologic or laboratory evidence of chromosomal abnormality form the basis of this report. In 16 children the limb anomalies fell within the commonly described spectrum of the VATER association. In the other 8 children and in 3 of the children with typical VATER limb anomalies additional anomalies were encountered: Sprengel deformity [2], hypoplasia of the humerus [3], radioulnar synostosis [1], midline anomalies of the hand [1], absence of the pubis, femur, tibia, and fibula and two rays of the foot [1], and other foot deformities. Subtle anomalies of the hand were common and included: clinodactyly, syndactyly, shortening of the middle phalanx of the fifth digit, and rotary malposition of the digits.
THE PROBLEM: Bilateral congenital absence of the fibula in a 10-year-old boy. A marked valgus malalignment at the left ankle and a foot with three rays caused pain during standing and walking. Ortheses did not help. Therefore, various treatment options were considered such as amputation of the foot, a supramalleolar correction osteotomy, and a tibiotalar arthrodesis. THE SOLUTION: Correction of malalignment and ankle arthrodesis stabilized with an external mini-fixator while sparing the distal tibial physis. SURGICAL TECHNIQUE: Two skin incisions: one on the medial side visualizing the flexor tendons and the neurovascular bundle while sparing the sural nerve and the small saphenous vein. Exposure of the medial malleolus after division of its ligamentous and capsular attachments. Localization of the ankle joint. The second incision on the lateral side. Z-lengthening of the sole peroneal tendon. Opening of the ankle joint at the lateral and anterior aspect. Resection of the articular surfaces of tibia and talus based on a preoperatively made drawing that showed an alignment of the hindfoot with the longitudinal axis of the tibia and the foot in 90 degrees in relation to the leg. Temporary insertion of a Kirschner wire from the sole of the foot into the tibia to maintain the obtained correction. Placement of a mini-fixator: one threaded Kirschner wire crosses the talocalcaneal synostosis, the second the distal tibial epiphysis, and the third one the proximal third of the tibia. Once the frame is mounted, compression of the resection surfaces and slight distraction between the proximal and middle Kirschner wires. RESULT: At the age of 16 years the boy is able to use a regular shoe with an orthotic insert; he is pain-free and can participate in all daily activities. The growth of the tibia has not been affected.
We reviewed 77 conservatively and 164 operatively treated cases of rupture of the long head of the biceps documented in the literature. Refixation offers a small but relatively constant improvement of flexion and supination power and thus reduces the number of cases with remaining light or marked weakness by one third. Deformity by the slipped muscle can be corrected effectively. As complications are uncommon surgery should be recommended to young and active patients and should at least be offered to less active patients. Thirteen patients were re-examined after operative repair for distal biceps tendon avulsion and 277 reported cases were reviewed. After conservative management (n = 20) the power of flexion remains reduced by 30%-40%, that of supination by more than 50%. The loss of flexion power, as well as the deformity can be nicely diminished by attachment of the distal biceps to the brachialis muscle (n = 22). There are no complications documented regarding this procedure. The anatomic reinsertion (n = 248) additionally reduces the loss of supination power to 0%-25%, but bears a higher risk of complications. The double-incision technique (n = 105 of 248) does not necessarily decrease this risk. There are as many nerve injuries reported as with the single-anterior approach. Additionally we are faced with the problem of radioulnar synostosis. The use of suture anchors provides a nice way of fixation of the tendon but does not facilitate the approach to the tuberosity. The distal biceps tendon rupture should be treated operatively. The adequate method of repair is to be determined individually.
Ruptures of the long head of the M. biceps humeri are commonly caused by degenerative changes within the tendon. They are associated with pathologies of the subacromial space. The loss of power regarding elbow flexion and supination amounts to 8 to 21% after conservative treatment. Refixation offers a small but evident improvement of flexion and supination power. Especially endurance is improved. The number of cases with remaining light or marked weakness is reduced by more than 50%. Deformity by the slipped muscle can be corrected effectively. Function of the glenohumeral joint can only be improved if associated subacromial problems are identified and treated simultaneously. As complications are uncommon surgery should be recommended to young and active patients and should at least be offered to less active patients. Ruptures of the distal tendon are less common. Thirteen patients were re-examined after operative repair for distal biceps tendon avulsion and 277 reported cases were reviewed. After conservative management (n = 20) the power of flexion will remain reduced by 30%-40%, that of supination by more than 50%. The loss of flexion power, as well as the deformity can be diminished by attachment of the distal biceps to the brachialis muscle (n = 22). The anatomic re-insertion (n = 248) additionally reduces the loss of supination power to 0%-25%, but bears a higher risk of complications. Using the 'double-incision technique' (n = 105 of 248) does not decrease the risk of naval lesions but increases the incidence of radioulnar synostosis. The use of suture anchors provides a nice way of fixation of the tendon but does not facilitate the approach to the tuberosity. The distal biceps tendon rupture should be treated operatively. The adequate method of repair is to be determined individually.
We retrospectively evaluated six cases of distal biceps tendon rupture that were treated by a two-incision operative repair using suture anchor attachment to the radial tuberosity for clinical outcome and strength testing. All patients had repair performed by the same surgeon. The average age of the patients, all male, was 43 years (range, 32-57 years). Average time from injury to operative repair was 22 days (range, 9-54 days). Follow-up time averaged 24 months after definitive treatment (range, 11-46 months). At follow-up no patient had limitation of activity and all patients were able to return to their previous employment, although three noted some minor antecubital fossa discomfort. No patient developed a synostosis. Cybex (Medway, Mass.) isokinetic testing revealed elbow flexion strength return for peak torque, total work, and average power, of 107%, 103%, and 110% of the uninjured arm, respectively. Elbow flexion endurance was 2% less in the injured arm. Forearm supination strength measured by peak torque, total work, and average power, was 97%, 85%, and 88% of the uninjured arm, respectively. Forearm supination endurance was 10% less in the injured arm. Our results using suture anchor repair are similar to those previously reported in the literature from bone tunnel repair. Based on our data, we believe that a two-incision repair with suture anchor attachment is a safe and effective method for treatment of distal biceps tendon ruptures.
Estrogens have profound effects on the processes of bone formation and turnover in females. The physiological role of this class of hormones on bone metabolism in males is less certain. The purpose of this study was to determine the effect of the high affinity estrogen receptor antagonist ICI 182,780 on tibial growth in normal male rats. The effects of ICI 182,780 on growing male rats were compared to orchiectomy, which prevents the synthesis of estrogens as well as androgens. Neither orchiectomy nor ICI 182,780 had an effect on body weight gained. Orchiectomy decreased longitudinal bone growth at the proximal tibial metaphysis and radial bone growth at the tibia-fibula synostosis. In contrast, ICI 182,780 had no effect on either endochondral or intramembranous bone growth. These findings suggest that androgens are more important than estrogens in determining peak bone mass in male rats.
We performed a clinical and radiographic review of 15 patients (19 limbs) with longitudinal deficiency of the tibia treated between 1981 and 2001. Ten limbs with Kalamchi type I deficiencies were managed by through-knee amputation. Five type II deficiencies were treated by foot ablation and tibiofibular synostosis, either at the same time or staged, but prosthetic problems may arise from varus alignment and prominence of the proximal fibula. Patients with type III deficiencies (four cases) were treated by foot ablation. Prosthetic problems relating to proximal or distal tibiofibular instability may necessitate additional surgical intervention.