Introduction. Lumbosacral transitional vertebrae (LSTV) are increasingly recognized as a common anatomical variant and is the most common congenital anomaly of the lumbosacral spine. Patients can have symptomatic LSTV, known as Bertolotti's Syndrome, where transitional anatomy can cause back, L5 distribution leg, hip, and groin pain. We propose an outline for diagnosis and treatment of Bertolotti's Syndrome. Methods. We retrospectively reviewed over 500 patients presenting to the primary author with low back, buttock, hip, groin and/or leg pain from April 2009 through April 2024. Patients with radiographic findings of an LSTV and clinical presentation underwent diagnostic injections to confirm diagnosis of Bertolotti's syndrome. Treatment was determined based on patient's LSTV classification. 157 patients with confirmed Bertolotti's syndrome underwent surgical treatment. Results. Over 500 patients presented with an appropriate clinical presentation and radiographic findings of an LSTV. Diagnostic injections were targeted into the transitional anatomy confirming the LSTV as the primary pain generator to make the diagnosis of Bertolotti's syndrome. The decision in the type of surgical intervention, resection or fusion, was made based on patient's LSTV anatomy. 157 patients with confirmed Bertolotti's Syndrome underwent surgical treatment (121 fusions (77%), 36 resections (23%)). The classification system and surgical outcomes, in part, have been previously published in World Neurosurgery. Conclusion. We have outlined the best practice of diagnosis and treatment selection for Bertolotti's syndrome. We have shown significant improvement in outcomes based on this method. We hope to aid in both patient education and provide an outline on how clinicians can become knowledgeable on Bertolotti's syndrome. Conflicts of interest. No conflicts of interest. Sources of funding. No funding obtained

Aims. Patients with cauda equina syndrome (CES) require emergency imaging and surgical decompression. The severity and type of symptoms may influence the timing of imaging and surgery, and help predict the patient’s prognosis. Categories of CES attempt to group patients for management and prognostication purposes. We aimed in this study to assess the inter-rater reliability of dividing patients with CES into categories to assess whether they can be reliably applied in clinical practice and in research. Methods. A literature review was undertaken to identify published descriptions of categories of CES. A total of 100 real anonymized clinical vignettes of patients diagnosed with CES from the Understanding Cauda Equina Syndrome (UCES) study were reviewed by consultant spinal surgeons, neurosurgical registrars, and medical students. All were provided with published category definitions and asked to decide whether each patient had ‘suspected CES’; ‘early CES’; ‘incomplete CES’; or ‘CES with urinary retention’. Inter-rater agreement was assessed for all categories, for all raters, and for each group of raters using Fleiss’s kappa. Results. Each of the 100 participants were rated by four medical students, five neurosurgical registrars, and four consultant spinal surgeons. No groups achieved reasonable inter-rater agreement for any of the categories. CES with retention versus all other categories had the highest inter-rater agreement (kappa 0.34 (95% confidence interval 0.27 to 0.31); minimal agreement). There was no improvement in inter-rater agreement with clinical experience. Across all categories, registrars agreed with each other most often (kappa 0.41), followed by medical students (kappa 0.39). Consultant spinal surgeons had the lowest inter-rater agreement (kappa 0.17). Conclusion. Inter-rater agreement for categorizing CES is low among clinicians who regularly manage these patients. CES categories should be used with caution in clinical practice and research studies, as groups may be heterogenous and not comparable. Cite this article: Bone Joint J 2023;105-B(9):1007–1012

Aims. Traumatic central cord syndrome (CCS) typically follows a hyperextension injury and results in motor impairment affecting the upper limbs more than the lower, with occasional sensory impairment and urinary retention. Current evidence on mortality and long-term outcomes is limited. The primary aim of this study was to assess the five-year mortality of CCS, and to determine any difference in mortality between management groups or age. Methods. Patients aged ≥ 18 years with a traumatic CCS between January 2012 and December 2017 in Wales were identified. Patient demographics and data about injury, management, and outcome were collected. Statistical analysis was performed to assess mortality and between-group differences. Results. A total of 65 patients were identified (66.2% male (n = 43), mean age 63.9 years (SD 15.9)). At a minimum of five years’ follow-up, 32.3% of CCS patients (n = 21) had died, of whom six (9.2%) had died within 31 days of their injury. Overall, 69.2% of patients (n = 45) had been managed conservatively. There was no significant difference in age between conservatively and surgically managed patients (p = 0.062). Kaplan-Meier analysis revealed no significant difference in mortality between patients managed conservatively and those managed surgically (p = 0.819). However, there was a significant difference in mortality between the different age groups (< 50 years vs 50 to 70 years vs > 70 years; p = 0.001). At five years’ follow-up, 55.6% of the patient group aged > 70 years at time of injury had died (n = 15). Respiratory failure was the most common cause of death (n = 9; 42.9%). Conclusion. Almost one-third of patients with a traumatic CCS in Wales had died within five years of their injury. The type of management did not significantly affect mortality but their age at the time of injury did. Further work to assess the long-term functional outcomes of surviving patients is needed to generate more reliable prognostic information. Cite this article: Bone Joint J 2023;105-B(8):920–927

Aims. Cauda equina syndrome (CES) can be associated with chronic severe lower back pain and long-term autonomic dysfunction. This study assesses the recently defined core outcome set for CES in a cohort of patients using validated questionnaires. Methods. Between January 2005 and December 2019, 82 patients underwent surgical decompression for acute CES secondary to massive lumbar disc prolapse at our hospital. After review of their records, patients were included if they presented with the clinical and radiological features of CES, then classified as CES incomplete (CESI) or with painless urinary retention (CESR) in accordance with guidelines published by the British Association of Spinal Surgeons. Patients provided written consent and completed a series of questionnaires. Results. In total, 61 of 82 patients returned a completed survey. Their mean age at presentation was 43 years (20 to 77; SD 12.7), and the mean duration of follow-up 58.2 months (11 to 182; SD 45.3). Autonomic dysfunction was frequent: 33% of patients reported bladder dysfunction, and 10% required a urinary catheter. There was a 38% and 53% incidence of bowel and sexual dysfunction, respectively: 47% of patients reported genital numbness. A total of 67% reported significant back pain: 44% required further investigation and 10% further intervention for the management of lower back pain. Quality of life was lower than expected when corrected for age and sex. Half the patients reported moderate or worse depression, and 40% of patients of working age could no longer work due to problems attributable to CES. Urinary and faecal incontinence, catheter use, sexual dysfunction, and genital numbness were significantly more common in patients with CESR. Conclusion. This study reports the long-term outcome of patients with CES and is the first to use validated patient-reported outcome measures to assess the CES Core Outcome Set. Persistent severe back pain and on-going autonomic dysfunction were frequently reported at a mean follow-up of five years. Cite this article: Bone Joint J 2021;103-B(9):1464–1471

Bertolotti’s syndrome is characterised by anomalous enlargement of the transverse process(es) of the most caudal lumbar vertebra which may articulate or fuse with the sacrum or ilium and cause isolated L4/5 disc disease. We analysed the elective MR scans of the lumbosacral spine of 769 consecutive patients with low back pain taken between July 2003 and November 2004. Of these 568 showed disc degeneration. Bertolotti’s syndrome was present in 35 patients with a mean age of 32.7 years (15 to 60). This was a younger age than that of patients with multiple disc degeneration, single-level disease and isolated disc degeneration at the L4/5 level (p ≤ 0.05). The overall incidence of Bertolotti’s syndrome in our study was 4.6% (35 of 769). It was present in 11.4% (20 patients) of the under-30 age group. Our findings suggest that Bertolotti’s syndrome must form part of a list of differential diagnoses in the investigation of low back pain in young people

Purpose and background. Cauda equina syndrome (CES) leads to nerve compression in the lumbar spine, and requires immediate treatment to prevent permanent neurological dysfunction, including urinary/anorectal incontinence. The consequences for the patient are significant as, in the decade to 2018, CES has cost the NHS £186,134,049. No study has reported patients’ experiences of being managed with suspected CES in an emergency department (ED), and this study explores patients’ experiences and how the NHS can optimise care for patients experiencing this condition. Methods and Results. In this qualitative secondary analysis, 14 participants (aged 23–63 years) with suspected CES were purposively sampled from 4 EDs in England. Online, semi-structed interviews were undertaken (in 2021, during the pandemic), and were audio-recorded and transcribed verbatim. Data were managed using a Framework approach and analysed thematically. Three themes were identified: quality of care; environmental factors; and expectations. The quality of care included managing uncertainty, the importance of communication, appropriate assessment and follow-up care. Environmental factors, including the chairs, waiting times and the busy nature of the ED, negatively impacted patients’ experiences. Furthermore, an expectation gap was identified, as most individuals came to the ED expecting to receive a scan, an accurate diagnosis and a cure. Despite frustrations, patients expressed gratitude towards the ED staff. Conclusion. This study highlights the importance of empathically acknowledging the patient's pain and providing comprehensive assessments and management plans for people attending ED with suspected CES. Optimising the ED environment to minimise patients’ pain and distress while waiting to access care is paramount and overdue. No conflicts of interest.  . Sources of funding. Funding for primary data: Health Education England & National Institute of Health and Care Research (ICA-CDRF-2018-04-ST2-040)

Purpose and background. Cauda Equina Syndrome (CES), a rare (<1 per 100,000) and potentially devasting condition, involves compression of the lumbosacral nerve roots. If not quickly identified and treated, it can lead to lasting disability, and high medicolegal costs (>£186 million in the decade to 2018). This study identified why people with suspected CES attend the emergency department (ED) and explored any delays in attending. Methods and Results. The design was a secondary analysis of a qualitative dataset comprising patients with back pain who attended the ED, undertaken using an interpretivist approach. Fourteen patients (8M:6F, aged 23–63 years) with suspected CES were purposively sampled from 4 EDs (2 Northern and 2 Southern) in England between August and December 2021. Semi-structured interviews were conducted online, audio-recorded, transcribed verbatim and analysed thematically. Acopia with pain was the biggest factor in a participant's decision to attend the ED, along with the need for a diagnosis. This pain was the worst ever experienced and debilitating, leaving people unable to cope and desperate for relief. 12/14 were advised to attend the ED following identification of red flags by: GPs (n=9); physiotherapists (n=2); surgical colleague (n=1); and 111 (n=1). Factors such as guilt, previous experience of being disregarded, and symptom misattribution were seen to cause delays in seeking care. Conclusion. This paper revealed a disconnect between the priorities of patients and clinicians prior to attending the ED. Clinicians need to validate the pain experience, communicate clearly why signs and symptoms are concerning, and convey the urgency and potential impact of CES. Conflicts of interest. None. Sources of funding. Funding for primary data: Health Education England & National. Institute of Health and Care Research (ICA-CDRF-2018-04-ST2-040)

There are many causes of paraspinal muscle weakness which give rise to the dropped-head syndrome. In the upper cervical spine the central portion of the spinal cord innervates the cervical paraspinal muscles. Dropped-head syndrome resulting from injury to the central spinal cord at this level has not previously been described. We report two patients who were treated acutely for this condition. Both presented with weakness in the upper limbs and paraspinal cervical musculature after a fracture of C2. Despite improvement in the strength of the upper limbs, the paraspinal muscle weakness persisted in both patients. One ultimately underwent cervicothoracic fusion to treat her dropped-head syndrome. While the cause of the dropped-head syndrome cannot be definitively ascribed to the injuries to the spinal cord, this pattern is consistent with the known patho-anatomical mechanisms of both injury to the central spinal cord and dropped-head syndrome

Spinal deformities are a common feature of Marfan’s syndrome and can be a significant cause of morbidity. The morphology of the scoliosis associated with this condition was previously described by Sponseller, but no correlation with the pelvic parameters has been seen. We performed a retrospective radiological study of 58 patients with scoliosis, secondary to Marfan’s syndrome and related the findings in the thoracolumbar spine to the pelvic parameters, including pelvic version (tilt), pelvic incidence and sacral slope. Our results showed marked abnormalities in the pelvic values compared with those found in the unaffected population, with increased retroversion of the pelvis in particular. In addition we found a close correlation between the different patterns of pelvic parameters and scoliosis morphology. We found that pelvic abnormalities may partially dictate the spinal disorders seen in Marfan’s syndrome. Our results supplement the well-established Sponseller classification, as well as stressing the importance of considering the orientation of the pelvis when planning surgery

Aims. Early cases of cauda equina syndrome (CES) often present with nonspecific symptoms and signs, and it is recommended that patients undergo emergency MRI regardless of the time since presentation. This creates substantial pressure on resources, with many scans performed to rule out cauda equina rather than confirm it. We propose that compression of the cauda equina should be apparent with a limited sequence (LS) scan that takes significantly less time to perform. Methods. In all, 188 patients with suspected CES underwent a LS lumbosacral MRI between the beginning of September 2017 and the end of July 2018. These images were read by a consultant musculoskeletal radiologist. All images took place on a 3T or 1.5T MRI scanner at Stoke Mandeville Hospital, Aylesbury, UK, and Royal Berkshire Hospital, Reading, UK. Results. The 188 patients, all under the age of 55 years, underwent 196 LS lumbosacral MRI scans for suspected CES. Of these patients, 14 had cauda equina compression and underwent emergency decompression. No cases of CES were missed. Patients spent a mean 9.9 minutes (8 to 10) in the MRI scanner. Conclusion. Our results suggest that a LS lumbosacral MRI could be used to diagnose CES safely in patients under the age of 55 years, but that further research is needed to assess safety and efficacy of this technique before changes to existing protocols can be recommended. In addition, work is needed to assess if LS MRIs can be used throughout the spine and if alternative pathology is being considered. Cite this article: Bone Joint J 2020;102-B(4):501–505

There is no universally agreed definition of cauda equina syndrome (CES). Clinical signs of CES including direct rectal examination (DRE) do not reliably correlate with cauda equina (CE) compression on MRI. Clinical assessment only becomes reliable if there are symptoms/signs of late, often irreversible, CES. The only reliable way of including or excluding CES is to perform MRI on all patients with suspected CES. If the diagnosis is being considered, MRI should ideally be performed locally in the District General Hospitals within one hour of the question being raised irrespective of the hour or the day. Patients with symptoms and signs of CES and MRI confirmed CE compression should be referred to the local spinal service for emergency surgery. CES can be subdivided by the degree of neurological deficit (bilateral radiculopathy, incomplete CES or CES with retention of urine) and also by time to surgical treatment (12, 24, 48 or 72 hour). There is increasing understanding that damage to the cauda equina nerve roots occurs in a continuous and progressive fashion which implies that there are no safe time or deficit thresholds. Neurological deterioration can occur rapidly and is often associated with longterm poor outcomes. It is not possible to predict which patients with a large central disc prolapse compressing the CE nerve roots are going to deteriorate neurologically nor how rapidly. Consensus guidelines from the Society of British Neurological Surgeons and British Association of Spinal Surgeons recommend decompressive surgery as soon as practically possible which for many patients will be urgent/emergency surgery at any hour of the day or night. . Cite this article: Bone Joint J 2015;97-B:1390–4

Aims. Diagnosis of cauda equina syndrome (CES) remains difficult; clinical assessment has low accuracy in reliably predicting MRI compression of the cauda equina (CE). This prospective study tests the usefulness of ultrasound bladder scans as an adjunct for diagnosing CES. Methods. A total of 260 patients with suspected CES were referred to a tertiary spinal unit over a 16-month period. All were assessed by Board-eligible spinal surgeons and had transabdominal ultrasound bladder scans for pre- and post-voiding residual (PVR) volume measurements before lumbosacral MRI. Results. The study confirms the low predictive value of ‘red flag’ symptoms and signs. Of note ‘bilateral sciatica’ had a sensitivity of 32.4%, and a positive predictive value (PPV) of only 17.2%, and negative predictive value (NPV) 88.3%. Use of a PVR volume of ≥ 200 ml was a demonstrably more accurate test for predicting cauda equina compression on subsequent MRI (p < 0.001). The PVR sensitivity was 94.1%, specificity 66.8%, PPV 29.9% and NPV 98.7%. The PVR allowed risk-stratification with 13% patients deemed ‘low-risk’ of CES. They had non-urgent MRI scans. None of the latter scans showed any cauda equina compression (p < 0.006) or individuals developed subsequent CES in the intervening period. There were considerable cost-savings associated with the above strategy. Conclusion. This is the largest reported prospective evaluation of suspected CES. Use of the PVR volume ≥ 200 ml was considerably more accurate in predicting CES. It is a useful adjunct to conventional clinical assessment and allows risk-stratification in managing suspected CES. If adopted widely it is less likely incomplete CES would be missed. Cite this article: Bone Joint J 2020;102-B(6):677–682

Purpose. To establish if the subjective features of both bilateral leg pain and sexual dysfunction are presenting features in cauda equina syndrome (CES). Background. There appears to be conflicting expert opinion ‘red flag’ symptoms in the context of CES with many experts basing clinical decisions on the objective clinical findings only. Bilateral radiculopathy has been suggested as a possible sign of suspected CES, although a consensus statement by BASS and SBNS makes no reference to either this or sexual dysfunction. However, bilateral leg pain is included in the NICE clinical knowledge summary and sexual dysfunction is highlighted within CES guidance by the American Association of Neurological Surgeons. Methods. The clinical documentation of patients undergoing urgent magnetic resonance imaging (MR) due to clinical suspicion of cauda equina syndrome (CES) was reviewed over 12 months. Patients questioned regarding sexual function were included in this retrospective analysis (n=179), along with those with bilateral leg pain (n=294). Patients with confirmed cauda equina compression (CES +ve) were compared to those without (CES -ve). A logistic regression was applied to find the odds ratio. Results. In CES +ve 37.5% had sexual dysfunction, 48% had bilateral leg pain. CES –ve 14% had sexual dysfunction, 27% bilateral leg pain. Both significant to p=0.015 with an odds ratio of 3.6 and 2.5 respectively. Conclusions. Both sexual dysfunction and bilateral leg pain do appear to be ‘red flags’ for CES and should therefore be asked in the ED to aid clinical reasoning when suspecting this diagnosis. No conflicts of interest. No funding obtained

To establish the incidence of litigation in Cauda Equina Syndrome (CES) and the causes of litigation. Review of 10 years of abbreviated records of the National Health Service litigation authority (NHSLA) (1997-2007) and eight years of medical negligence cases (MNC) reported on by the two senior authors (2000-2008). Patients who experienced CES and litigated. There were 117 patients in the NHSLA records and 23 patients in the MNC group. Review of timing of onset, delay in diagnosis, responsible specialist, place, and resulting symptoms. NHSLA cases. 62/117 cases were closed. The responsible specialists were as follows. Orthopaedic. 60. Accident and Emergency. 32. Other. 25. The commonest failure was delay in diagnosis, and the commonest complications were “neurological”, bladder and bowel. MNC cases. F:M;17/6. L4/5 13 cases, L5/S1 9 cases. The responsible specialist was orthopaedic (7), other (7) and in 8 cases the opinion was that there was no case to answer. Delay to treatment averaged 6.14 days. 18/23 patients described bowel and bladder symptoms, the information was not available in the remainder. Litigation is major problem in CES. In most cases orthopaedic surgeons are litigated against, and bowel and bladder symptoms remain the most disturbing cause of litigation. These surgeons are mostly not spinal specialists. In most successful cases of litigation there is considerable delay in diagnosis and management. Where there is incomplete Cauda Equina Syndrome urgent or emergency investigation and treatment is mandatory

We describe three patients with pre-ganglionic (avulsion) injuries of the brachial plexus which caused a partial Brown-Séquard syndrome

Background. The relationship between obesity and cauda equina syndrome (CES) has not been previously evaluated or defined. Aim. The purpose of this study was to determine the effect of body habitus on the presentation and outcome of cauda equina syndrome. Study Design. Single-centre case series. Methods. A retrospective analysis was performed on 40 patients admitted with cauda equina syndrome. Data was collected regarding patient demographics, body mass index (BMI), co-morbidities, onset & mode of presentation and speed of functional recovery following surgery. Results. There were 18 males and 22 females with an overall average age of 38.9 years. The average height was 167 cm, and the average weight was 95.3 kg, giving an average BMI of 30.3 Kg/m2. 80% of patients were considered overweight (BMI 25-29.5) or obese (BMI >30). The average duration of back or leg pain prior to presentation was 4.2 years for the obese group and 1.3 years for the non-obese group. Bilateral sciatica, urinary incontinence and dense peri-anal numbness were the predominant presenting features in the obese group. Onset of symptoms was fast and rapidly evolving in the non-obese group compared to the obese group. In the non-obese group, 71% underwent surgery within 24 hrs as opposed to 31% in the obese group. There was correlation between increasing BMI and increased rate of surgical complications. Recovery of motor and sensory function appeared to occur more quickly in the non-obese compared to the obese group. Recovery of bladder continence was 83% in non-obese patients and 69% in the obese group at 6 months. Conclusion. This is the first study exploring the impact of body mass index on CES presentation and outcome. Specific care in establishing an early diagnosis in obese individuals is imperative for timely intervention

No previous studies have examined the physical characteristics of patients with cauda equina syndrome (CES). We compared the anthropometric features of patients who developed CES after a disc prolapse with those who did not but who had symptoms that required elective surgery. We recorded the age, gender, height, weight and body mass index (BMI) of 92 consecutive patients who underwent elective lumbar discectomy and 40 consecutive patients who underwent discectomy for CES. On univariate analysis, the mean BMI of the elective discectomy cohort (26.5 kg/m. 2. (16.6 to 41.7) was very similar to that of the age-matched national mean (27.6 kg/m. 2. , p = 1.0). However, the mean BMI of the CES cohort (31.1 kg/m. 2. (21.0 to 54.9)) was significantly higher than both that of the elective group (p < 0.001) and the age-matched national mean (p < 0.001). A similar pattern was seen with the weight of the groups. Multivariate logistic regression analysis was performed, adjusted for age, gender, height, weight and BMI. Increasing BMI and weight were strongly associated with an increased risk of CES (odds ratio (OR) 1.17, p < 0.001; and OR 1.06, p <  0.001, respectively). However, increasing height was linked with a reduced risk of CES (OR 0.9, p < 0.01). The odds of developing CES were 3.7 times higher (95% confidence interval (CI) 1.2 to 7.8, p = 0.016) in the overweight and obese (as defined by the World Health Organization: BMI ≥ 25 kg/m. 2. ) than in those of ideal weight. Those with very large discs (obstructing > 75% of the spinal canal) had a larger BMI than those with small discs (obstructing < 25% of the canal; p < 0.01). We therefore conclude that increasing BMI is associated with CES

Introduction. The authors recognised that patients presenting to the Orthopaedic Spinal Rapid Access Service with symptoms and or signs of cauda equina syndrome may not have the diagnosis confirmed radiologically. Altered sensation in the ‘saddle area’, bilateral sciatica, urinary incontinence or retention, altered bowel habit, and sexual dysfunction are well recognised symptoms of cauda equina syndrome. Recognised side-effects of neuropathic medications commonly prescribed for radicular pain include: altered sensation, urinary incontinence or retention, and sexual dysfunction. We have undertaken a retrospective cohort analysis in order to identify the relationship between prescribed medications and presenting symptoms and signs. Method. 151 patients were referred to the service within a 6 month period. Case notes of 34 patients presenting with symptoms and or objective signs of CES in absence of positive radiological findings were reviewed. Data collected included the patient's age, sex, prescribed medications and presenting symptoms. Results. Of these 34, 9(26%) presented with altered bladder function and ‘saddle area’ sensation and 25(74%) with isolated bladder symptoms. Mean age was 47 in both female and males, 26 females and 8 males. 16(47%) were taking neuropathic medications, 7(22%) anti-depressants and 9(28%) anti-convulsant medications. Conclusion. 16(47%) of patients presenting with CES in the absence of radiological evidence were prescribed neuropathic medications with known side effects that may contribute to their symptoms. Therefore clinicians should take due consideration of prescribed medications as a possible cause of CES signs and symptoms. Further work is required to analyse data from a larger patient population in order to identify if particular medications carry a higher risk. Conflicts of interest: No conflicts of interest. Sources of funding: No funding obtained

Degenerative changes of the knee often cause loss of extension. This may affect aspects of posture such as lumbar lordosis. A total of 366 patients underwent radiological examination of the lumbar spine in a standing position. The knee and body angles were measured by physical examination using a goniometer. Limitation of extension of the knee was significantly greater in patients whose lumbar lordosis was 30° or less. Lumbar lordosis was significantly reduced in patients whose limitation of extension of the knee was more than 5°. It decreased over the age of 70 years, and the limitation of extension of the knee increased over the age of 60 years. Our study indicates that symptoms from the lumbar spine may be caused by degenerative changes in the knee. This may be called the ‘knee-spine syndrome’

Introduction. Marfan syndrome (MFS) is a common connective tissue disorder affecting one in 3300 people worldwide, and is caused by unique mutations in the 65 exon gene for fibrillin-1—an essential microfibril component of ligaments, tendons, and muscle. A recently discovered feature in the Marfan mouse model is increased concentrations of transforming growth factor β, resulting in overgrowth. 70% of patients with MFS have scoliosis of some degree. Can lessons be learned from MFS aetiology and treatment that apply to idiopathic adolescent scoliosis? We aimed to establish whether there is a relationship between the type and location of mutation, and the presence and degree of severity of scoliosis, in patients with MFS. Methods. Of 181 consecutive patients with MFS with known causative fibrillin-1 mutations, 93 were male (51%) and 88 female (49%). 28 (15%; ten males, 18 females) of the total group had moderate to severe scoliosis, including two females and two males who had corrective surgery. Of the 16 patients with severe scoliosis (three males, 13 females), FBN1 mutations clustered in the latter half of the gene in exons 33–63. Of these 16 mutations, ten were severe (seven stop codons, three splice site mutations); the others were point mutations, three involving added cysteine and three substituted cysteine, in calcium-binding EGF-like regions. Height A rapid adolescent growth spurt to excessive height is a documented clinical feature in MFS. The age of clinical diagnosis as an indication of severity was on average 11·3 years (range 2 days to 36 years), and ten patients were diagnosed before the age of 12 years. Conclusions. Genotype-phenotype correlation for patients with MFS with moderate to severe scoliosis shows the trend/association of severe mutations in 25%, with 50% of the total in the latter half of the gene (exons 33–63) with stop codons and splice site mutations. Cysteine substitutions in calcium binding EGF-like regions occurred in a further 25% of mutations. Disruption of spinal support together with rapid excessive early pubertal growth presents a human model for production of scoliosis, and a rationale for attempted preventive irbesartan therapy in Marfan mouse models and human patients. The 21-centre national AIMS Trial of irbesartan in MFS commences in January, 2011, and skeletal measurements will be of interest