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Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. He postulated that it was a new entity different from the Melnick-Needles syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and radiological characteristics are shared by the HCS and the SFPKS and hypothesize that they represent a single entity with a variable degree of expression.

Abnormalities, Multiple↗

A long-term study of the donor-site ankle after vascularized fibula grafts in children.

We reviewed the long-term course of the donor-site ankle after vascularized fibula grafts in 13 children. The preventive and therapeutic effects of the tibio-fibular metaphyseal synostosis (T-F synostosis) against valgus ankle deformity, which is one of the postoperative donor-site problems, were evaluated based on three radiologic and clinical parameters. Thirteen patients were divided into two groups: patients with or without simultaneous T-F synostosis when the fibula was taken. Three patients underwent T-F synostosis secondarily after the development of the valgus deformity. Follow-up periods averaged 12.4 years. In the patients with primary T-F synostosis, valgus deformity was only observed in one case. No functional disorder of the ankle joints was observed after T-F synostosis. In the patients without T-F synostosis, all the patients younger than 8 years old showed valgus deformity, in which the tilting angle averaged 6.3 degrees. In the three patients who underwent T-F synostosis secondarily, the tilting angle normalized in cases in which the fixation was performed when the lateral wedging was in a mild stage. There was a statistically significant difference in valgus tilt angle between the two groups (with or without T-F synostosis).

Adolescent↗

Fibula free flap phalloplasty: modifications and recommendations.

Radial forearm flap phalloplasty should be regarded as the gold standard. The large forearm donor site scar, however, has led to the search for other donor areas. We present our modifications and recommendations for addressing the ideal goals of phalloplasty better when applying the fibula free flap. We recommend preconstruction and secondary anastomosis of the neo-urethra. Preoperative infiltration of the cutaneous nerve is recommended for planning of the sensate flap. The osseous part of the flap should be long enough to be fixed to the tunica albuginea. We recommend a longitudinal, rather than a transverse, design for the flap. For aesthetic reasons, the flap should include two triangular tongues. Even so, secondary surgery will be needed. The patient may be left with functional loss in the donor region. A case report illustrates all of these points. We conclude that the sensate fibula free flap has a place in phalloplasty in case the patient refuses a forearm scar.

Adult↗

Stress fracture of the distal tibia and fibula through heavy lifting.

BACKGROUND: Occupational stress fractures are reported among athletes, soldiers, ballet dancers, and in connection with shoveling. METHODS: A literature search on occupational stress fractures was performed. The biomechanical stress in association with special lifting tasks was estimated. RESULTS: A 59-year-old male welder presented with a stress fracture of the left distal tibia and fibula in connection with heavy lifting. The object was in front and lifted while he partly stood on one leg, which was rotated during the lifting. There was no considerable previous exposure to heavy lifting. CONCLUSION: It is likely, that this stress fracture was the result of strain on tibia and fibula through this composite lifting operation.

Fibula↗

Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?

Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radioulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.

Abnormalities, Multiple↗

A quantitative analysis of donor site morbidity after vascularized fibula transfer.

Eleven patients with free vascularized fibula graft transplants to the upper extremity were studied for donor-side morbidity effects. Based on their surgical follow-up times, the patients were divided into either group 1 (5 +/- 2 months) or group 2 (21 +/- 8 months) to examine the effects of surgical trauma more closely. Gait evaluation was performed using two walkways containing different ground conditions. Knee and ankle-foot motion was measured using a three-dimensional electrogoniometer. Basic temporodistance factors and ground reactions were obtained from foot switches, instrumented floor mats, and a force plate. A modified Cybex II isokinetic dynamometer was used to quantitate ankle-foot strengths. Moderate knee and ankle-foot motion changes were seen while walking on the level, sideslope, and ramp in patients evaluated less than 10 months after their surgical procedure. Minimal joint motion effects were discovered in patients with follow-up times longer than 10 months. Muscle strengths were significantly impaired in both groups, especially foot inversion and eversion. An inverse relationship existed between the length of resected fibula and ankle evertor muscle strength. Donor side morbidity does not appear to be caused by surgical soft-tissue trauma exclusively. These patients need to be studied for several more years to determine the long-term functional effects of free vascularized fibular graft transfer.

Adult↗

Complex oncologic reconstruction of a mandibular and floor of mouth defect with a fibula free flap in an achondroplastic patient.

The fibular free flap is seen as one of the foremost technical options in mandibular reconstruction, especially in those defects where long bone is required. Cases with squamous-cell carcinoma of the floor of the mouth with mandibular spread and subsequent segmentary mandibular removal are the cornerstone examples. A case of squamous-cell carcinoma of the whole floor of the mouth with mandibular invasion is reported. Radical resection of the floor of the mouth and bilateral mandibular horizontal ramus was performed, with a bony defect extending from angle to angle. The patient revealed an achondroplastic condition, with remarkable dwarfism and long-bone morphological alterations, that minimized the potential fibular length to transfer. A microsurgical reconstruction with an osteocutaneous fibular free flap was undertaken. The flap design was technically compromised by the forward bowing of the fibula and the ossification of the interosseous membrane. Specific intraoperative strategies for dealing with anatomic variations are discussed. The fibular free flap is an excellent technique for mandibular reconstruction. Morphological deviations can modify the design of the flap. Achondroplasia is not a deterrent in successful use of the free fibula flap for reconstruction of the head and neck in adequately selected cases.

Achondroplasia↗

Treatment of congenital pseudarthrosis of the tibia by microsurgical fibula transfer.

Conventional methods for the treatment of congenital pseudarthrosis of the tibia (CPT) often lead to unsatisfactory results and so microsurgical fibula transfer (MFT) has appeared as an option to treat this challenging problem. In this series of 27 patients with CPT, we obtained satisfactory results in 23 as assessed by the timing of bone union and bone hypertrophy of the fibular transplant. The overall functional results were also good; in 18 patients, the residual shortening was less than 2 cm (with no limb shortening in 4) and in 7, shortening ranged between 2 and 4 cm. All 25 patients resumed normal walking without the help of braces after an average of 12 months. This report suggests that microvascular fibula transfers provide superior results in the treatment of CPT, especially when considering that many of such cases represented previous surgical failures.

Child↗

Donor-site necrosis following fibula free-flap transplantation: a report of three cases.

The free fibula flap is the microsurgeon's workhorse for the reconstruction of osseous or osteocutaneous defects. Donor-site morbidity of this flap is reported to occur infrequently, and is generally considered minor and transient. We present the case histories of three patients with necrosis at the fibula flap donor site to stress the risks and explain the possible mechanisms of such severe complications. The small risk of debilitating donor-site necrosis should be considered and discussed preoperatively with the patient.

Adult↗

Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation.

We describe the prenatal sonographic diagnosis of femur-fibula-ulna complex at 20 weeks of gestation. On targeted ultrasound examination, a severe malformation of the lower limbs was observed. Further sonographic exploration demonstrated bilateral asymmetrical femoral hypoplasia, hypoplasia of both tibiae, bilateral aplasia of the fibulae and oligosyndactyly of the right hand with absence of the 4th and 5th rays. The prenatal sonographic features and differential diagnosis are discussed.

Abortion, Induced↗

Lengthening osteotomy of the fibula to correct a widened mortice of the ankle after fracture.

The subtle diagnosis of widening of the mortice requires special radiographs which also make possible the recognition and extent of shortening of the fibula. With the help of a special compression/distraction device, a lengthening osteotomy can be carried out more easily then by conventional means. a reconstructive lengthening osteotomy of the fibula in cases of widening of the mortice is well worth while when there is absent or minimal osteoarthritic change, irrespective of the time from the original injury.

Adult↗

Radiology of postnatal skeletal development. VIII. Distal tibia and fibula.

Initially the distal tibial physis is a relatively transverse structure. As the epiphysis matures, undulations develop within the physis and lappet formation occurs peripherally. Within the first two years a significant physeal undulation develops anteriorly above the medial malleolus. This undulation must not be misinterpreted as premature epiphyseodesis following distal tibial fracture. Secondary ossification in the distal tibia begins centrally and initially expands to fill the area over the tibial plafond. At the lateral side of the tibial epiphysis the ossification center may be wedge-shaped. The medial margin adjacent to the medial malleolus is often irregular and may show small peripheral foci of ossification. By seven to eight years, the secondary center extends into the medial malleolus, with complete distal extension often not occurring until adolescence (although usually complete by ten to eleven years). The malleolar tip may exhibit an accessory ossification center. However, this center also may be a traumatic avulsion in the symptomatic patient. Physiologic epiphyseodesis begins over the medial malleolus and subsequently extends laterally. This pattern of closure appears to predispose to fracture of the lateral portion of the distal tibial epiphysis (fracture of Tillaux), as well as to triplane fractures. The articular surface curves onto the lateral side of the distal tibia to form an articulation with the lateral malleolus (distal tibiofibular joint). A similar extension occurs along the medial side of the fibula. These surfaces extend proximally as a recess to the level of the distal tibial physis, at which point the syndesmosis begins. The initially transverse distal fibular physis becomes a convoluted structure, with extensive peripheral lappet formation. Within these regions of physeal overlap there may be small areas of accessory ossification (both medially and laterally) that should not be misinterpreted as fractures. This overlapping also minimizes specific physeal separation and displacement (especially when compared to the incidence of distal tibial physeal injuries). Stress views may be necessary to show such an undisplaced fracture. The fibular physis normally is level with the tibial articular surface or distal extent of the tibial ossification center, especially after the second year of life (however, it may be more proximal in infants). As in the medial malleolus, there may be accessory ossification at the tip of the fibula. While this usually is a normal variant of secondary ossification, occasionally it also may result from trauma. Extensive porosity of the distal fibular metaphysis predisposes to buckling or torus injuries that may have severe, multiangular deformation.

Adolescent↗

Benign osteoblastoma of the fibula. Case report.

Report on a case of a patient, white, eleven years old, girl and brasilian, who came to the Service complaining of pain in both legs, at the level of the knee joint in a period of two years time. After an accurate orthopaedic examen the focal place was detected at the level of the proximal end of the fibula. The radiogram confirmed the existence of an osteolitic lesion in the superior end of the fibula, right side, in a cortical position and surrounded by a sclerotic area. The surgical removal was performed and the pathological examens confirmed to be a benign osteoblastoma. The postoperative evolution was normal and uneventfull. The radiograms demonstrate that in a three years period the healing of the bone was normal and total. No graft used and the periostal activity was the main source of bone formation.

Bone Neoplasms↗

Absence of the posterior tibial artery: implications for free transplants of the fibula.

A well-documented case of absence of the posterior tibial a. is reported. We have studied 40 personal case-records of dissection of the arteries of the leg in fresh corpses. This study allowed classification of the origins of the leg arteries from the popliteal a. into 7 groups. Several findings emerged: 1) the peroneal a. is constant, for phylogenetic and embryologic reasons, 2) the posterior tibial a. is absent in 1 to 5% of cases [1, 2, 4, 6-8] (Fig. 4), in which case the vascularisation of the fibula remains as normal (the proximal epiphysis of the fibula is vascularised by the anterior tibial a., the diaphysis and the distal epiphysis by the peroneal a.). Other anatomic variations may be found: trifurcation of the popliteal a., origin of the anterior tibial a. from the peroneal a., absence of the anterior tibial a., aplasia of the terminal portions of both the anterior and posterior tibial aa. In practice, absence of the posterior tibial a. can be demonstrated by arteriography and doppler ultrasound. We are dubious about the indications for arteriography, which is not always a risk-free examination, and therefore prefer doppler examination with ultrasound, which supplies adequate information in the majority of cases.

Female↗

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

We report on the third patient with serpentine fibula-polycystic kidney syndrome. Main features in the three reported cases were growth retardation, abnormal face, hirsutism, short neck, bowed forearms and lower legs due to bowed radii and elongated serpentine fibulae, and metatarsus adductus. Two patients including our own were deaf. All were mentally normal, all were female and sporadic. In addition, we report on a girl with Melnick-Needles syndrome and illustrate the similarities and differences between these syndromes.

Child↗

Non-union of pediatric fibula fractures: easy to overlook, painful to ignore.

Fracture non-union in the pediatric population may span the age range from childhood to adolescence. Fracture non-union in children and adolescents is often due to an underlying cause such as affliction with neurofibromatosis or osteogenesis imperfecta. Although less commonly seen, non-union may occur in the otherwise healthy pediatric population. We report three cases of fracture non-union of the distal end of the fibula in the pediatric age group. All three were characterized by persistent local pain and tenderness following injury with radiographic evidence of fracture non-union. All three had undergone conservative treatment with extended periods of immobilization. Following surgery, all three had marked improvement of their local symptomatology. One patient's course was complicated by reflex sympathetic dystrophy syndrome. In two patients, resection of the un-united fragment at the distal fibula resulted in marked relief from pain without any increase in ankle instability. We postulate that the fracture non-union resulted in a fibrotic reaction that was so extensive that ankle stability was maintained even after removal of the fracture fragment.

Adolescent↗

[Oblique osteotomy for post-traumatic fibula incongruity].

BACKGROUND: Injuries of the ankle joint are common and, considering that this joint is highly mechanically stressed, it seems obvious that therapy requires restoring the joint to a physiological, anatomically functional unit. In case of post-traumatic shortening, rotation and talar tilt arthritis may result because of the changed biomechanics. Before this occurs, typical clinical symptoms are recurrent swelling, pain, and limited range of motion, together resulting in reduced mobility and quality of life. With prompt indication and revision lengthening the lateral ankle and thus restoring joint congruity, patient complaints are significantly reduced and the development of advanced arthritis can be avoided. PATIENTS AND METHODS: Within a period of 7 years, 16 patients with post-traumatic shortening of the fibula were treated with oblique osteotomy and lengthening of the fibula at our department. The mean time between trauma and reconstructive surgery was 10 months, and the median follow-up period to clinic and radiological examination was 3.7 years. RESULTS AND CONCLUSION: Comparison of results before and after correction showed significant subjective improvements, and the development or continuation of post-traumatic arthritis could be hindered, of critical importance to which is prompt indication for operative joint correction, because clinical symptoms of advanced osteoarthritis of the ankle joint cannot be expected to improve.

Activities of Daily Living↗

[Reconstruction of the tibial diaphysis with transfer of the tibial head onto the proximal fibula. Follow-up after 63 years].

Osteoarthritis of the knee is often diagnosed in the orthopedic trauma practice. One major cause is axial deformity with overload. In the case presented here osteomyelitis of the tibial diaphysis developed in childhood. Surgical treatment consisted of resection of the middle tibial third and transferring the tibial head onto the proximal fibula. In this way it was possible to eradicate the osteomyelitis of the lower leg and to achieve osseous consolidation between the tibia and fibula. Despite the significant shortening of the lower limb and the varus axial deformity, the knee joint function was satisfactory in the subsequent development. After a long interval without symptoms the patient developed a medially accentuated osteoarthritis of the knee.

Aged↗