Introduction: Treatment of high energy unstable lower leg fractures requires a fixation system that will provide skeletal stability, promote bone healing without residual deformity and allow wound care. The Taylor Spatial Frame is a device which provides excellent skeletal stability, allows immediate weight bearing and provides an opportunity for correction of residual deformity without return to the operating theatre.

Method: 9 patients (10 limbs), all male, mean age 12.6 (5.2–16.5 years old) were treated at Bristol Royal Hospital for Children for high energy tibial fractures between 2005 and 2008. There were 6 open fractures (3 fractures Gustilo IIIA and 3 IIIB) and 4 closed fractures. Of the 4 closed fractures, 3 required fasciotomies for compartment syndrome. The case notes and radiographs of all patients were retrospectively reviewed to assess outcomes.

Results: 2 patients were stabilized primarily with TSF, 1 had plaster backslab before applying TSF, 7 were treated primarily with unilateral external fixation prior to applying TSF. TSF was applied on average 7.3 days after initial injury. All fractures were reduced at the first visit to the operating theatre. In 6 cases malalignment developed and residual deformity corrections were performed via TSF programming, in 1 case frame was adjusted at the second visit to theatre to facilitate wound closure and then fracture reduced. Time of treatment with TSF was on average 107 days. Sound bone union and satisfactory wound healing was achieved in all cases. All tibiae were united without significant residual deformity or leg length discrepancy. There was one complication – muscle tethering at proximal fine wire fixation requiring adjustment of TSF with insertion of half pins.

Discussion: In this study group the results of TSF fixation were excellent. The commonest device used in this patient group is unilateral external fixation. Whilst this gives predictable results and allows good wound care there are limitations to the use of this technique. The TSF has two particular advantages that we believe make it more suitable than unilateral external fixation. The intrinsic stability of the ring structure allows immediate post-operative weight bearing and the programmable strut adjustments allow easy non-operative correction of residual deformity.

Survivors of meningococcal septicaemia often develop progressive skeletal deformity secondary to physeal damage at multiple sites, particularly in the lower limb. Distal tibial physeal arrest typically occurs with sparing of the distal fibular physis leading to a rapidly progressive varus ankle deformity. There is no previous literature reporting this ankle deformity following meningococcal septicaemia.

We report the management of this deformity in 13 ankles in 10 consecutive patients 36 months after meningococcal septicaemia. Plain radiographs and MRI were used to define the deformity and the extent of growth plate involvement.

The Taylor Spatial Frame (TSF) with a distal tibial metaphyseal osteotomy was used to restore the distal tibio-fibular joint. Distal fibular epiphysiodesis was performed in all ankles at the initial procedure. Distal tibial epiphysiodesis was performed at the time of fixator removal.

The age at operation ranged from 3–14 years (mean 8). The preoperative ankle varus deformity ranged from 9–29 degrees (mean 19). The differential shortening of the tibia with respect to fibula was on average 1.2 cms. The mean time in frame was 136 days. After a mean follow-up of 1.7 years results were excellent in all patients with complete correction of deformity and shortening. Mechanincal axis was corrected in all patients.

Complications included, 4 superficial pin site infections, 1 lateral peroneal nerve palsy which recovered completely. There were no major nerve or vascular complications.

We consider that this approach provides a powerful method of correction for this difficult group of patients.

Introduction: Blount’s disease is an idiopathic, non-physiological form of genu varum. Deformity usually occurs in the proximal tibia with progressive varus, but also with valgus in the distal femur. Treatment in the infantile stage includes observation or bracing, and surgery for acute marked proximal tibial varus. Recurrence is common with conventional surgery after the age of four.

Method: A new surgical technique is proposed as definitive treatment of this condition which includes an arthrogram to visualise the knee joint, acute elevation of the varus aligned medial tibia plateau with second plane correction of posterior slope deformity, lengthening and derotation of the tibia by application of a Taylor spatial frame, application of an 8 plate on the distal femur to correct valgus deformity and finally proximal tibial and fibular epiphysiodesis to prevent recurrence.

Results: Five patients with Blount’s disease had this definitive corrective procedure performed at a mean age of 9.8. Radiographs and CT scans taken pre-operatively demonstrated marked medial plateau varus deformity and increased posterior slope. Surgery was performed by the senior author. Follow-up X-rays demonstrated satisfactory alignment, length and rotation of the lower limb.

Conclusions: This new surgical technique allows correction of all deformities of Blount’s disease at one operation and maintains alignment, length and rotation clinically and radiologically at follow-up.

The results of a functional, clinical and radiological study of 30 children (60 hips) with whole body cerebral palsy are presented with a mean follow-up of ten years.

Bilateral simultaneous combined soft-tissue and bony surgery was performed at a mean age of 7.7 years (3.1–12.2).

Evaluation involved interviews with patient/carers and clinical examination.

Plain radiographs of the pelvis assessed migration percentage and centre-edge angle.

Twenty two patients were recalled. Five had died of unrelated causes and three were lost to follow-up.

Pain was uncommon, present in 1 patient (4.5%). Improved handling was reported in 18 of 22 patients (82%). Carer handling problems were attributed to growth of the patients. All patients/carers considered the procedure worthwhile.

The range of hip movements improved, with a mean windsweep index of 36 (50 pre-operatively)

Radiological containment improved, with mean migration percentage of 20 degrees (50 preoperatively) and mean centre-edge angle of 29 degrees (−5 preoperatively) No statistical difference was noted between the three year and ten year follow-up results demonstrating maintained clinical and radiological outcome improvement.

In conclusion, we consider that bilateral simultaneous combined hip reconstruction in whole body cerebral palsy provides painless, mobile and anatomically competent hips in the long term.

Background: Proteus Syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described, there is no systematic histopathological description of the lesional pathology.

Objective: To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre.

Patients/Methods: Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular reference to descriptive features of the underlying tissue abnormality.

Results: There were 18 surgical specimens from nine patients, median age 4 (range 1–9) years, including four main categories; soft tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haeman-gioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and non-specific features). In all cases the clinical features of overgrowth were due to increased amounts of disorganised tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case.

Conclusions: The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata and lymphatic-rich vascular malformations.

Background: The Ilizarov external fixator has theoretical advantages over conventional revision surgery for the treatment of recurrent clubfoot deformity where scarred tissue planes, abnormal anatomy and impairment of local blood supply are common.

Objective: To assess the outcome of treatment of recurrent club-foot deformity using this device.

Patients/Methods: The study evaluated Ilizarov external fixator correction of 40 feet in 31 patients. Deformity was idiopathic in 29 patients, associated with constriction bands in 6 patients and was syndromic or associated with a defined neuromuscular disorder in 6 patients.

Patients were reviewed clinically and completed questionnaires documenting pain, function and satisfaction before and after treatment at a mean follow-up of 44 months (range 14–131). All patient’s notes and radiographs were examined.

Results: Pain and function scores after treatment improved in 67% and 72% of cases respectively. A subjective increase in stiffness was noted in 46%. Patient satisfaction with outcome was 61%, correlating with improved pain and function scores. Pain and function scores were not significantly different in stiff versus non-stiff feet. The overall recurrence rate was 44%, and was highest in the idiopathic group (59%) compared with the constriction band group (17%) and the neuromuscular/syndromic group (0%). Feet with recurrent deformity had been treated with the Ilizarov fixator at a younger mean age (7.8 years) than those feet which did not recur (mean age 12.6 years). 71% of recurrences experienced significant pain post treatment, compared with only 36% of those feet where deformity did not recur. Functional ability was, however, similar in the two groups. Further surgical treatment has been necessary in 6 patients, including 4 further Ilizarov frames.

Complications included almost universal minor pin-site infections, flexion contractures of the toes in 5 feet and skin ulceration in 2 feet, 1 requiring a muscle flap.

Conclusions: Treatment of relapsed clubfoot with the Ilizarov fixator can improve the appearance of the foot, correlating with improvement in pain, function and patient satisfaction. This must be balanced however against a high recurrence rate, particularly in young idiopathic feet, an increase in stiffness of the ankle, which has implications for future surgery, and the risk of complications inherent in the technique.

17 patients have undergone 20 microdrilling procedures to stimulate bone union in cases of established non-union. This occurred at the docking site following completion of bone transport using a stacked Taylor Spatial Frame, non-union following arthrodesis or non-union in long bone fracture.

Additional bone grafting was performed in only one patient. Further stimulation of union via injection of Bone Morphogenetic Protein was undertaken with 3 microdrilling procedures.

Of the 20 microdrilling procedures, 8 were considered fully successful in terms of stimulation of union, 7 were partially successful and 5 were not felt to have been successful.

The mean time to fully successful union following microdrilling was 11.4 weeks, ranging from 6 to 19 weeks.

There were 2 complications, both acute infections at the microdrilling site. Both of these were in patients with previous significant pin site infections.

We present the use of a microdrilling technique as a safe and effective minimally invasive technique that promotes union in cases of refractory non-union, whilst avoiding the donor site morbidity associated with open bone grafting.

We present, as a pilot study, our experience in the use of this technique in patients treated with circular frames for acute fractures, at the docking site in cases of bone transport and in cases of non-union following arthrodesis.

Purpose of study: To assess functional, clinical and radiological outcomes of 30 children (60 hips) with whole body cerebral palsy with a mean follow-up of ten years.

Method: Bilateral simultaneous combined soft-tissue and bony hip surgery was performed at a mean age of 7.7 years (3.1–12.2). Evaluation at ten years involved interviews with patient/carers and clinical examination. Plane radiographs of the pelvis assessed migration percentage and centre-edge angle.

Results: Twenty two patients were recalled. Five had died of unrelated causes and three were lost to follow-up. Pain was present in only 1 patient (4.5%). Improved handling was reported in 18 of 22 patients (82%). Carer handling problems were attributed to growth of the patients. All patients/carers considered the procedure worthwhile. The range of hip movements improved, with a mean windsweep index of 36 (50 pre-operatively) Radiological containment improved, with mean migration percentage of 20 degrees (50 preoperatively) and mean centre-edge angle of 29 degrees (−5 preoperatively) No statistical difference was noted between the three year and ten year follow-up results, demonstrating sustained improvement in the clinical and radiological outcome.

Conclusions: Bilateral simultaneous combined hip reconstruction in whole body cerebral palsy provides painless, mobile and anatomically competent hips in the longer term.

The majority of the available literature considers the short term outcome of surgical reconstruction of the hips in this condition. This paper demonstrates that the initial improvements in structure and function are maintained in the longer term.

The results of a functional, clinical and radiological study of 30 children (60 hips) with whole-body cerebral palsy were reviewed at a mean follow-up of 10.2 years (9.5 to 11). Correction of windsweep deformity of the hips was performed by bilateral simultaneous combined soft-tissue and bony surgery at a mean age of 7.7 years (3.1 to 12.2).

We were able to recall 22 patients; five had died of unrelated causes and three were lost to follow-up. Evaluation involved interviews with patients/carers and clinical and radiological examination.

The gross motor functional classification system was used to assess overall motor function and showed improvement in seven patients. Of the 12 patients thought to have pain pre-operatively, only one had pain post-operatively. Improved handling was reported in 18 of 22 patients (82%). Those with handling problems were attributed by the carers to growth of the patients. All patients/carers considered the procedure worthwhile. The range of hip movements improved, and the mean windsweep index improved from 50 pre-operatively to 36 at follow-up.

The migration percentage and centre-edge angle were assessed on plain radiographs. Radiological containment improved, the mean migration percentage improved from 50 pre-operatively to 20 at follow-up and the mean centre-edge angle improved from −5° to 29°.

No statistical difference was noted between the three-year and ten-year follow-up results, indicating that the improvements in clinical and radiological outcome had been maintained.

Introduction: The Ilizarov external fixator has theoretical advantages over conventional revision surgery for the treatment of recurrent clubfoot deformity. The aim of this study was to assess the outcome of such treatment.

Materials & Methods: Patients were reviewed clinically and completed extensive questionnaires documenting pain, function and satisfaction before and after the frame at a mean follow-up of 44 months (range 14–131). All patient notes and radiographs were reviewed.

Results: There were 42 frames applied to 40 feet in 31 patients. Deformity was idiopathic in 29 cases. Pain and function scores after treatment improved in 67% and 72% of cases respectively. A subjective increase in stiffness was noted in 46%. Patient satisfaction with outcome was 61%. Pain and function scores were not significantly different in stiff versus non-stiff feet. The overall recurrence rate was 44%; these feet had been treated with the Ilizarov fixator at a younger mean age (7.8 years) than those feet which did not recur (12.6 years). Recurrence was highest in the idiopathic group (59%) compared with the constriction band group (17%) and the neuromuscular/syndromic group (0%), despite the fact that the idiopathic group were older overall. 71% of recurrences experienced significant pain post treatment, compared with only 36% of non-recurrent feet. Functional ability was, however, similar in the two groups. Further surgical treatment has currently been necessary in 6 patients, including 4 repeat Ilizarov frames. Complications included almost universal minor pin-site infections, flexion contractures of the toes in 5 feet and skin ulceration in 2 feet, 1 requiring a muscle flap.

Conclusions: Treatment of the relapsed clubfoot with the Ilizarov fixator can improve the appearance of the foot, correlating with improvement in pain and function. Risks include recurrence, particularly in young, idiopathic feet, an increase in stiffness of the ankle, which has implications for future surgery, and other complications.

We have treated 17 patients with bone defects of the tibia by internal bone transport using a stacked Taylor Spatial Frame.

There were 12 cases of infected non unions, 2 cases of osteomyelitis, 1 case of acute traumatic bone loss, 1 case of non union in a patient with neurofibromatosis, and 1 case of pseudoarthrosis of the tibia.

The mean bone defect was 51.8mm (range 10–100mm).

Leg length has been restored to within 10mm in 16 cases and to within 15mm in one case. All patients have united.

Residual deformity at the docking site or regenerate was negligible in 4 patients and less than 5 degrees in any plane in the remaining 13 patients. There have been two cases of re-fracture which have united with conservative treatment and 1 case of partial peroneal nerve palsy which is recovering.

The use of a stacked Taylor Spatial Frame system is effective in mediating bone transport resulting in predictable regenerate, accurate docking and minimal induced bone deformity.

Osteofibrous dysplasia is an unusual developmental condition of childhood, which almost exclusively affects the tibia. It is thought to follow a slowly progressive course and to stabilise after skeletal maturity. The possible link with adamantinoma is controversial and some authors believe that they are part of one histological process.

We retrospectively reviewed 16 patients who were diagnosed as having osteofibrous dysplasia initially or on the final histological examination. Their management was diverse, depending on the severity of symptoms and the extent of the lesion. Definitive (extraperiosteal) surgery was localised ‘shark-bite’ excision for small lesions in five patients. Extensive lesions were treated by segmental excision and fibular autograft in six patients, external fixation and bone transport in four and proximal tibial replacement in one. One patient who had a fibular autograft required further excision and bone transport for recurrence. Six initially underwent curettage and all had recurrence. There were no recurrences after localised extraperiosteal excision or bone transport. There were three confirmed cases of adamantinoma.

The relevant literature is reviewed. We recommend extraperiosteal excision in all cases of osteofibrous dysplasia, with segmental excision and reconstruction in more extensive lesions.

The purpose of this study is to demonstrate that definitive surgery (extraperiosteal excision) is required in patients with osteofibrous dysplasia (OFD) due to the risk of recurrence and co-existent adamantinoma

OFD is an unusual childhood condition, which almost exclusively affects the tibia. It is thought to follow a slowly progressive course and to stabilise after skeletal maturity. The possible link with adamantinoma is controversial with some authors believing that they are part of one histological process. This therefore provides difficulty in recommending treatment options

A retrospective review of OFD was conducted. Using the Stanmore Bone Tumour Unit database 22 cases were identified who were initially diagnosed with OFD or were diagnosed on final histology. All cases were tibial except one lesion in the ulna and one in the fibula

Management was diverse depending on the severity of symptoms and the extent of the lesions encountered. Definitive (extraperiosteal) surgery in the majority of our patients was localized excision for small lesions (less than 50% of the bony circumference) and segmental excision followed by reconstructive surgery for more extensive ones. Seven patients had a sharkbite excision and a further seven were treated with fibula autografting. Of the latter group, one required further excision and bone transport due to recurrence of OFD. An additional five underwent bone transport & distraction osteogenesis using the Ilizarov technique and one had a proximal tibial replacement. Nine initially underwent curettage, but eight recurred (recurrence rate 88.9%). No recurrences occurred following localized extraperiosteal excisions and bone transport. There were three confirmed cases of adamantinoma.

In view of the risk of association of OFD with adamantinoma, and to some extent the continuous morbidity of OFD if left untreated, we believe that radical extraperiosteal excision is indicated in most if not all cases of OFD

Introduction: The purpose of this study is to demonstrate that definitive surgery (extraperiosteal excision) is required in patients with osteofibrous dysplasia (OFD) due to the risk of recurrence and co-existent adamantinoma. The possible link with adamantinoma is controversial with some authors believing that they are part of one histological process. This therefore provides difficulty in recommending treatment options.

Methods: Using our database 22 cases of OFD were identified. Management was diverse.

Results: Definitive (extraperiosteal) surgery, in the majority of our patients, was localized excision for small lesions (less than 50% of the bony circumference) and segmental excision followed by reconstructive surgery for more extensive ones. Seven patients had a “shark-bite” excision and a further seven were treated with fibula autografting. Of the latter group, one required further excision and bone transport due to recurrence of OFD. Five underwent bone transport & distraction osteogenesis and one had a proximal tibial replacement. Nine initially underwent curettage, but eight recurred. No recurrences occurred following localized extraperiosteal excisions and bone transport. There were three confirmed cases of adamantinoma.

Discussion: In view of the risk of association of OFD with adamantinoma, and to some extent the continuous morbidity of OFD if left untreated, we believe that radical extraperiosteal excision is indicated in most if not all cases of OFD.

Introduction and Aims: Recurrence of clubfoot deformity occurs in up to 25% of cases following surgery. The Ilizarov fixator has theoretical advantages over conventional revision surgery in feet with scarred tissue planes, abnormal anatomy and impairment of local blood supply. In addition, limb-length discrepancy can be addressed simultaneously.

The aim of the study was to assess the outcome of treatment of recurrent clubfoot deformity using the Ilizarov frame.

Method: There were 39 feet in 31 patients with at least 12 months follow-up. All patients completed questionnaires documenting pain, function and shoe-size before and after the frame. Twenty-six feet were reviewed clinically. Patient notes and radiographs of all patients were examined. The average period of follow-up was 48 months (14–131 months).

Results: Pain scores improved in 69%, with similar improvement in activity level, walking distance and walking surface. In 20 feet there was improvement in the type of shoes worn. Twenty patients felt their feet were stiffer after the frame. Patient satisfaction with outcome was 74%. A plantigrade foot was achieved initially in all, but deteriorated with time, so that at clinical review only 46% had plantigrade feet. A straight medial border was seen in 81%. The range of movement of ankle and sub-talar joints decreased after the frame. Recurrent deformity was present in 38%, being more likely in younger patients, but in only a few, has further surgery been necessary to date. Complications included minor pin-site infections, flexion contractures of the toes, revision of the frame and revision of one osteotomy.

Conclusion: Treatment of relapsed clubfoot with the Ilizarov frame improves the appearance of the foot, correlating with improvement in pain, function and shoewear. This must be balanced against an increase in stiffness of the ankle, which has implications for future surgery, and the risk of complications inherent in the technique.

Introduction and Aim: The purpose of this study is to demonstrate that definitive surgery (extraperiosteal excision) is required in patients with osteofibrous dysplasia (OFD) due to the risk of recurrence and co-existent adamantinoma. OFD is an unusual childhood condition, which almost exclusively affects the tibia. It is thought to follow a slowly progressive course and to stabilise after skeletal maturity. The possible link with adamantinoma is controversial, with some authors believing that they are part of one histological process. This therefore provides difficulty in recommending treatment options.

Method and Results: A retrospective review of OFD was conducted. Using the Stanmore Bone Tumor Unit database, 22 cases were identified who were initially diagnosed with OFD or were diagnosed on final histology. All cases were tibial except one lesion in the ulna and one in the fibula. Management was diverse, depending on the severity of symptoms and the extent of the lesions encountered. Definitive (extraperiosteal) surgery in the majority of our patients was localised excision for small lesions (less than 50% of the bony circumference) and segmental excision followed by reconstructive surgery for more extensive ones. Seven patients had a ‘sharkbite’ excision and a further seven were treated with fibula autografting. Of the latter group, one required further excision and bone transport due to recurrence of OFD. An additional five underwent bone transport and distraction osteogenesis using the Ilizarov technique and one had a proximal tibial replacement. Nine initially underwent curettage, but eight recurred (recurrence rate 88.9%). No recurrences occurred following localised extraperiosteal excisions and bone transport. There were three confirmed cases of adamantinoma

Conclusion: In view of the risk of association of OFD with adamantinoma, and to some extent the continuous morbidity of OFD if left untreated, we believe that radical extraperiosteal excision is indicated in most if not all cases of OFD

Aim: To review an uncommon deformity arising in four patients. Method: A clinical and radiological review. Abstract: We describe four cases of distal radial epiphyseal dysplasia associated with a localised area of cutis aplasia congenita (CAC) over the dorsum of the distal forearm. The cutis aplasia was diagnosed at birth in all cases, but the radial dysplasia was not recognised until presentation to our orthopaedic department between the ages of 5 and 10 years. Radial dysplasia describes a spectrum of osseous, musculotendinous, and neurovascular dysplasias of the pre-axial border of the upper limb, and is the most common form of longitudinal deþ ciency. Cutis aplasia congenita involves an ulcerated area lacking in normal skin formation, present at birth. The most common site is on the scalp, but it has been described on the extremities, and overlying embryological malformations. This association, the long-term implications and the requirement for follow-up until skeletal maturity have not previously been described. We emphasise the importance of continued monitoring of these patients as the effects of radial dysplasia did not become obvious for several years, and the potential beneþt from achieving early skin cover with grafting rather than allowing healing by secondary intention is discussed. It is important to increase awareness of this condition so that early orthopaedic and plastic surgical opinions can be sought, in order to reduce the disabling effect on the underlying radius. Conclusions: Heightened awareness and early treatment with monitoring is required.

Objective: To review of an uncommon deformity arising in four patients.

Method: A clinical and radiological review.

Conclusions: heightened awareness and early treatment with monitoring is required.

We describe four cases of distal radial epiphyseal dysplasia associated with a localised area of cutis aplasia congenita (CAC) over the dorsum of the distal forearm. The cutis aplasia was diagnosed at birth in all cases, but the radial dysplasia was not recognised until presentation to our orthopaedic department between the ages of 5 and 10 years. Radial dysplasia describes a spectrum of osseous, musculotendinous, and neurovascular dysplasias of the pre-axial border of the upper limb, and is the most common form of longitudinal deficiency. Cutis aplasia congenita involves an ulcerated area lacking in normal skin formation, present at birth. The most common site is on the scalp, but it has been described on the extremities, and overlying embryological malformations. This association, the long-term implications and the requirement for follow-up until skeletal maturity have not previously been described. We emphasise the importance of continued monitoring of these patients as the effects of radial dysplasia did not become obvious for several years, and the potential benefit from achieving early skin cover with grafting rather than allowing healing by secondary intention is discussed. It is important to increase awareness of this condition so that early orthopaedic and plastic surgical opinions can be sought, in order to reduce the disabling effect on the underlying radius.

The Proteus syndrome involves asymmetrical gigantism, verrucous epidermal naevi, vascular malformations, hamartomas and hyperostosis. The clinical features have frequently been described, but the radiological features have not been studied in detail. This paper describes the radiological features of a group of 18 patients (12 male, 6 female) that presented to the Department of Dermatology and Orthopaedic Surgery of this institution.

Plain radiographs of each affected area were obtained to assist in the diagnosis and subsequent management of each patient. These radiographs were evaluated in an attempt to define the radiological anatomy of the osseous lesions.

The abnormalities were classified as involving abnormal ossification, hyperostotic overgrowth or ectopic calcification. The individual features of each group will be presented. We attempted to define radiological parameters that were specific to this condition and therefore useful in diagnosis. We considered a number of radiological measurements and found a consistent alteration in bony architecture of the upper and lower limbs of affected individuals. This association was not detected in other overgrowth symptoms. This is the first objective radiological parameter that assists in the diagnosis of this rare condition.