Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.

Achondroplasia is the most common form of dwarfism, caused by a mutation in fibroblast growth factor receptor 3 gene, leading to multiple pathological conditions. Herein, we present a case of an infant with achondroplasia associated with hydrocephalus and severe foramen magnum stenosis. Computed tomography (CT) venography showed prominent suboccipital emissary veins comprising major venous drainage routes and hypoplastic transverse sinuses, which increased the risk of foramen magnum decompression. The infant was initially treated with ventriculo-peritoneal (VP) shunt. After 8 months, CT venography showed regression of suboccipital emissary veins and more prominent transverse sinuses. Subsequently, foramen magnum decompression was safely performed without sacrificing major venous drainage routes.

Surgical outcome after treatment of thoracolumbar spinal stenosis in adults with achondroplasia.

PURPOSE: To describe the complications and the outcome of patients with achondroplasia undergoing thoracolumbar spinal surgery. METHODS: Retrospective analysis of prospectively collected data of all patients with achondroplasia undergoing surgery within the years 1992-2021 at the thoracic and/or lumbar spine. The outcome was measured by analyzing the surgical complications and revisions. The patient-rated outcome was assessed with the COMI score from 2005 onwards. RESULTS: A total of 15 patients were included in this study undergoing a total of 31 surgeries at 79 thoracolumbar levels. 12/31 surgeries had intraoperative complications consisting of 11 dural tears and one excessive intraoperative bleeding. 4/18 revision surgeries were conducted due to post-decompression hyperkyphosis. The COMI score decreased from 7.5 IQR 1.4 (range 7.1-9.8) preoperatively to 5.3 IQR 4.1 (2.5-7.5) after 2 years (p = 0.046). CONCLUSION: Patients with achondroplasia, the most common skeletal dysplasia condition with short-limb dwarfism, are burdened with a congenitally narrow spinal canal and are commonly in need of spinal surgery. However, surgery in these patients is often associated with complications, namely dural tears and post-decompression kyphosis. Despite these complications, patients benefit from surgical treatment at a follow-up of 2 years after surgery.

Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up.

BACKGROUND: Total knee arthroplasty (TKA) in patients who have skeletal dysplasia (SD) is a technically challenging surgery due to deformity, joint contracture, and associated comorbidities. Patients presenting with this condition have traditionally been treated with conservative measures, leading to poor outcomes. The aim of this study was to follow-up on patients who had SD following TKA, specifically with regards to clinical outcomes. METHODS: A total of 31 knees (22 patients) with SD that had undergone TKA in our institution were included in our study. The mean follow-up from index surgery was 110.3 months (range: 20 to 291). The type of dysplasia, implant used, and clinical outcomes with patient-reported outcome measures are presented. RESULTS: There were 8 patients (36.3%) who had a diagnosis of achondroplasia, followed by multiple epiphyseal dysplasia (31.8%) and spondyloepiphyseal dysplasia (22.7%). There were 14 men and 8 women who had a mean age of 51 years (range: 28 to 73). Custom implants were required in 12 cases (38.7%), custom jigs were used in 6 cases (19.4%), and robotic-assisted surgery was used in 2 (6.5%) TKAs. Hinged prostheses were used in 17 cases (54.8%), posterior-stabilized in 9 (29.0%), and cruciate-retaining implants in 5 (16.1%). There was 1 patient who sustained an intraoperative medial tibial plateau fracture treated with concomitant open reduction and internal fixation. There was 1 revision that occurred during the follow-up period with a patella resurfacing for continued anterior knee pain. Postoperatively, Oxford Knee Scores improved on average by 12.2 points. The 10-year and 20-year all-cause revision-free survival was 96.8, respectively. CONCLUSIONS: Despite the technical challenges and complexity associated with this unique patient cohort, we demonstrated excellent implant survivorship and clinical outcomes post-TKA with mid-term to long-term follow-up of more than 20 years. We recommend preoperative cross-sectional imaging for precise planning and implant templating with multidisciplinary team decision-making. Despite our results, functional outcomes remain inferior to primary arthroplasty within the general population, although we still recommend this treatment modality to appropriately counseled patients. LEVEL OF EVIDENCE: III.

Surgery for Spinal Stenosis in Achondroplasia: Causes of Reoperation and Reduction of Risks.

BACKGROUND: Individuals with achondroplasia are prone to symptomatic spinal stenosis requiring surgery. Revision rates are thought to be high; however, the precise causes and rates of reoperation are unknown. The primary aim of this study is to investigate the causes of reoperation after initial surgical intervention in individuals with achondroplasia and spinal stenosis. In addition, we report on surgical techniques aimed at reducing the risks of these reoperations. METHODS: A retrospective review was conducted over an 8-year period of all patients with achondroplasia at a single institution that serves as a large referral center for patients with skeletal dysplasias. Patients with achondroplasia who underwent spinal surgery for stenosis were identified and the need for revision surgery was studied. Data collected included demographic, surgical, and revision details. Fisher exact test was used to determine if an association existed between construct type and the need for revisions. RESULTS: Thirty-three of the 130 (22%) patients with achondroplasia required spinal stenosis surgery. Twenty-four individuals who met the criteria were selected for analysis. The initial spine surgery was at an average age of 18.7 years (SD: 10.1 y). Nine patients (38%) required revision surgeries, and 3 required multiple revisions. Five of 9 (56%) of the revisions had primary surgery at an outside institution. Revision surgeries were due to caudal pseudarthrosis (the distal instrumented segment) (8), proximal junctional kyphosis (PJK) (7), and new neurological symptoms (7). There was a significant association found between construct type and the need for revision ( P =0.0111). The pairwise comparison found that short fusions were significantly associated with the need for revision compared with the interbody group ( P =0.0180). PJK was associated with short fusions when compared with the long fusion group ( P =0.0294) and the interbody group ( P =0.0300). Caudal pseudarthrosis was associated with short fusions when compared with the interbody group ( P =0.0015). Multivariate logistic regression found long fusion with an interbody was predictive of and protective against the need for revision surgery ( P =0.0246). To date, none of the initial cases that had long fusions with caudal interbody required a revision for distal pseudarthrosis. CONCLUSIONS: In patients with achondroplasia, the rate of surgery for spinal stenosis is 22% and the risk of revision is 38% and is primarily due to pseudarthrosis, PJK, and recurrent neurological symptoms. Surgeons should consider discussing spinal surgery as part of the patient's life plan and should consider wide decompression of the stenotic levels and long fusion with the use of an interbody cage at the caudal level in all patients to reduce risks of revision. LEVEL OF EVIDENCE: Level IV-Retrospective case series.

Evaluation of simultaneous bilateral femoral distraction osteogenesis with antegrade intramedullary lengthening nails in achondroplasia with rhizomelic short stature: a retrospective study of 15 patients with a minimum follow-up of 2 years.

BACKGROUND AND PURPOSE: Bilateral femoral distraction osteogenesis in patients with achondroplasia is insufficiently reported. We aimed to perform the first study that exclusively analyzed simultaneous bilateral femoral distraction osteogenesis with motorized intramedullary lengthening nails via an antegrade approach in patients with achondroplasia focused on reliability, accuracy, precision, and the evolving complications. PATIENTS AND METHODS: In this retrospective singlecenter study we analyzed patients with achondroplasia who underwent simultaneous bilateral femoral lengthening with antegrade intramedullary lengthening nails between October 2014 and April 2019. 15 patients (30 femoral segments) of median age 14 years (interquartile range [IQR] 12-15) were available for analysis. The median follow-up was 29 months (IQR 27-37) after nail implantation. RESULTS: The median distraction length per segment was 49 mm (IQR 47-51) with a median distraction index of 1.0 mm/day (IQR 0.9-1.0), and a median consolidation index of 20 days/cm (IQR 17-23). Reliability of the lengthening nails was 97% and their calculated accuracy and precision were 96% and 95%, respectively. The most common complication was temporary restriction of knee range of motion during distraction in 10 of 30 of the lengthened segments. 1 patient was treated with 2 unplanned additional surgeries due to premature consolidation. CONCLUSION: The method is reliable and accurate with few complications.

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia.

PURPOSE: Pregnancies affected by maternal or fetal achondroplasia present unique challenges. The optimal route of delivery in fetuses with achondroplasia has not been established. Our objective was to determine whether the route of delivery affects postnatal achondroplasia-related surgical burden. METHODS: We conducted a secondary analysis of Achondroplasia Natural History Study (CLARITY), which is a multicenter natural history cohort study of patients with achondroplasia. Achondroplasia-related surgical morbidity, which we defined as the need for one or more postnatal achondroplasia-related surgeries, was assessed in relation to the route of delivery and whether the mother also had achondroplasia. Rate of each individual surgery type (otolaryngology, brain, foramen magnum, spine, and extremity) was also assessed in relation to the route of delivery. RESULTS: Eight hundred fifty-seven patients with achondroplasia with known route of delivery and known maternal stature were included. Three hundred sixty (42%) patients were delivered vaginally, and 497 (58%) patients were delivered by a cesarean delivery. There was no difference in the odds of requiring any postnatal achondroplasia-related surgery in those with achondroplasia who were delivered vaginally compared with those delivered by cesarean birth (odds ratio 0.95, 95% CI = 0.68-1.34, P = .80). No difference was present in the odds of requiring any postnatal achondroplasia-related surgery when route of delivery was compared for fetuses born to 761 average stature mothers (odds ratio 1.05, 95% CI = 0.74-1.51, P = .78). There was also no difference in the odds of requiring each of the individual achondroplasia-related surgeries by route of delivery, including cervicomedullary decompression. CONCLUSION: Our study suggests that it is reasonable for average stature patients carrying a fetus with achondroplasia to undergo a trial of labor in the absence of routine obstetric contraindications.

Midline-Sparing Interapophysealaminar Decompression Technique for Management of Lumbar Stenosis in Pediatric Achondroplasia.

INTRODUCTION: Achondroplasia is the most common form of short-limb dwarfism in humans, with an incidence of 1 in 25,000-40,000 live births. About one-third of achondroplasia patients will require operative intervention for lumbar spinal stenosis, generally presenting with progressive neurogenic claudication. The anatomy of the achondroplastic lumbar spine, with shortened pedicles, hypertrophic zygapophyseal joints, and thickened laminae frequently results in the development of multilevel interapophyseolaminar stenosis, while stenosis is usually absent at the mid-laminar levels secondary to pseudo-scalloping of the vertebral bodies. Treatment remains controversial, as disrupting the posterior tension band with complete laminectomies in the pediatric population puts patients at risk of developing post-laminectomy kyphosis. CASE PRESENTATION: A 15-year-old girl with achondroplasia presented to clinic with debilitating neurogenic claudication in the setting of multilevel lumbar interapophyseolaminar stenosis. We present a technical case report of her successful surgical treatment using a midline posterior tension band sparing modification to the interapophyseolaminar decompression technique proposed by Thomeer et al. [J Neurosurg. 2002;96(3 Suppl l):292-7]. CONCLUSION: We demonstrate that an adequate interapophyseolaminar decompression can be achieved through the performance of bilateral laminotomies, bilateral medial facetectomies, and undercutting of the ventral spinous process while preserving supraspinous and interspinous ligament attachments. Given the generally multilevel nature of lumbar stenosis and longer life expectancies of pediatric achondroplasia patients, decompressive surgical interventions must aspire to minimize disruption of spine biomechanics if fusion surgery is to be avoided.

Hemiepiphysiodesis for Lower Extremity Coronal Plane Angular Correction in the Distal Femur and Proximal Tibia in Children With Achondroplasia.

BACKGROUND: Achondroplasia is the most prevalent form of skeletal dysplasia, affecting more than 250,000 individuals. Lower extremity angular deformities, particularly genu varum, are common in children with achondroplasia, often resulting in pain and limitation of function. The authors aim to determine the utility of lower extremity growth modulation with hemiepiphysiodesis in children with achondroplasia for correction of coronal plane deformities about the knee. METHODS: The authors performed a retrospective chart review of a single center from 1/1/2000 to 12/31/2020 to identify pediatric patients with achondroplasia treated with hemiepiphysiodesis as their initial procedure at the distal femur and/or proximal tibia. Patients with adequate records and who had completed their treatment were included. Data collected included duration of treatment, complications, need for osteotomy, and radiographic measurements including initial and final mechanical axis deviation, knee mechanical axis zone, mechanical lateral distal femoral angle and medial proximal tibia angle. RESULTS: Ten patients with 17 limbs met our criteria. Nine patients (15 limbs) were treated for genu varum and 1 patient (2 limbs) was treated for genu valgum. Prior to treatment, the mechanical axis fell in zone 3 in 59% of limbs and zone 2 in 41%. Average correction in mechanical axis deviation was 26.1 mm. Average change in mechanical lateral distal femoral angle was 10.3 degrees per limb, and average change in medial proximal tibia angle was 7.1 degrees per limb. Average treatment duration was 909 days. At final follow up, 81% (14/17) of limbs had the mechanical axis in zone 1, with the remaining 18% (3/17) in zone 2. No patient/limb underwent subsequent distal femur or proximal tibia osteotomy for coronal plane alignment. CONCLUSIONS: Children with achondroplasia can successfully be treated with hemiepiphysiodesis to correct coronal plane deformities at the distal femur and proximal tibia. Using this technique, no patient in our series required an osteotomy for genu varum/valgum. LEVEL OF EVIDENCE: Therapeutic level IV, Case series.

Growth Modulation by Tension Band Plate in Achondroplasia With Varus Knee Deformity: Comparison of Gait Analysis Measurements.

BACKGROUND: Limited evidence exists concerning growth modulation by tension band plate (TBP) to correct varus deformity in patients with achondroplasia with limited growth due to FGFR3 gene mutation. We evaluated the efficacy of TBP in children with achondroplasia with genu varum and reported the static radiographic and dynamic motion data to determine parameters that impact the rate of deformity correction. METHODS: Patients with achondroplasia with genu varum who underwent TBP surgery for growth modulation were studied. Those with at least 1 year of follow-up with TBP were included. Radiographic parameters were measured. Growth velocity of femoral/tibial length was calculated separately. Patients were deemed successful or unsuccessful. Spearman correlation analysis and Student t test were used to describe statistical results. RESULTS: Twenty-two patients (41 limbs; 12 girls) fulfilled our criteria. Mean age at TBP surgery was 7.6±2.4 years. Thirty-six femoral TBP and 41 tibial TBP were in place for 24.5±9.7 months. Mean mechanical axis deviation, mechanical lateral distal femoral angle, and medial proximal tibial angle preoperatively were 30.1±7.6 mm, 97.2±6.4, and 80.3±4.3 degrees, and 11±15.6 mm, 87.4±5.9, and 84.7±5.3 degrees at last follow-up ( P <0.001). Fifteen limbs were successfully straightened; 4 limbs were in more varus than the initial deformity. Twenty-four limbs with TBP were still undergoing correction. In successful limbs, mean age at surgery was 6.5±1.7 years and duration of TBP was 29.9±7.8 months. In 4 unsuccessful limbs, mean age at surgery was 11.7±1.2 years. Analysis in the gait laboratory included physical examination with the measurement of knee varus and kinematic varus based on a posterior view static standing photograph. Photographic measurement of varus was higher than the radiographic measurement. CONCLUSIONS: Growth modulation by TBP surgery is a reliable and simple technique to correct genu varum in achondroplasia. An early age at TBP implementation (mean: 6.5 y) is crucial to successfully correct the varus knee deformity. Furthermore, we recommend early and regular surveillance of achondroplasia for progressive varus knee deformity. LEVEL OF EVIDENCE: Level IV-cohort study.

Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia.

Achondroplasia is associated with foramen magnum stenosis. We report a male infant with achondroplasia and centrally mediated obstructive apnoea who underwent two foramen magnum decompression due to bone regrowth. He presented at six weeks of age with breath holding and apnoeic episodes associated with significant desaturation, requiring non-invasive ventilation. Craniospinal imaging revealed a narrow foramen magnum without signal change in the spinal cord. Sleep studies showed obstructive, but not central, apnoea. Respiratory abnormalities persisted and reimaging at two months showed development of significant signal changes at the cervicomedullary junction (CMJ). He underwent emergency foramen magnum decompression with initial clinical improvement. Ten days later he relapsed with further apnoeic episodes requiring respiratory support. After extensive re-investigations including CT and MRI, incomplete initial decompression and foramen magnum restenosis were considered and confirmed with a CT head scan 15 weeks after the initial operation. Repeat decompression of bone and removal of thickened dural bands resulted in complete resolution of the apnoeic episodes. Obstructive sleep apnoea can be centrally mediated and further decompression of foramen magnum stenosis should be considered, especially if significant respiratory compromise persists or recurs.

Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.

BACKGROUND: Achondroplasia is the commonest skeletal dysplasia of autosomal dominant inheritance caused by "gain of function" mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum compression due to accelerated ossification and spinal canal stenosis secondary to reduced interpedicular distance is a hallmark of achondroplasia, driven by G380R nucleotide pair substitution. In severe cases, limb weakness and neurogenic claudication will require surgical decompression. Rarely, a neurological condition may mimic the compressive spinal dysfunction and therefore, non-surgical causes must also be considered in cases of acute neurological deterioration in children with achondroplasia. Myasthenia gravis (MG) is an autoimmune condition resulting in fatigable muscle weakness. There are no reported cases of myasthenia gravis in achondroplasia in the literature. RESULTS: We report a child with achondroplasia scheduled for decompressive surgery for severe lumbar canal stenosis presenting with neurological claudication and knee weakness. While waiting for surgery during the COVID-19 pandemic, she developed generalized fatigability and severe weakness raising concerns of acute worsening of cord compression. Urgent investigations ruled out spinal cord compression but identified an unexpected concurrent myasthenia gravis with positive antibodies to acetylcholine receptors. The surgical intervention was postponed averting the potential risk of life-threatening anaesthetic complications. She was successfully managed with a combination of pyridostigmine, steroids, azathioprine, and plasma exchange. CONCLUSION: We report the first case of myasthenia gravis in achondroplasia and review implications in the management.

What Are the Risks and Functional Outcomes Associated With Bilateral Humeral Lengthening Using a Monolateral External Fixator in Patients With Achondroplasia?

BACKGROUND: Many patients with achondroplasia experience functional impairments because of rhizomelic upper extremities (proximal limb shortening). Bilateral humeral lengthening may overcome these functional limitations, but it is associated with several risks, such as radial nerve palsy and insufficient bone regeneration. Only a few studies have reported on patient satisfaction and functional outcome after humeral lengthening in patients with achondroplasia. Furthermore, the reported numbers of adverse events associated with lengthening procedures using external fixators vary widely. QUESTIONS/PURPOSES: (1) Does bilateral humeral lengthening with a monolateral external fixator in patients with achondroplasia reliably improve patient function and autonomy, and what proportion of patients achieved at least 8 cm of humeral lengthening? (2) What adverse events occur after bilateral humeral lengthening with monolateral external fixators? METHODS: Between 2011 and 2019, 44 patients underwent humeral lengthening at our institution. Humeral lengthening was performed in patients with severe shortening of the upper extremities and functional impairments. In humeri in which intramedullary devices were not applicable, lengthening was performed with monolateral external fixators in 40 patients. Eight patients were excluded because they underwent unilateral lengthening for etiologies other than achondroplasia, and another four patients did not fulfill the minimum study follow-up period of 2 years, leaving 28 patients with bilateral humeral lengthening to treat achondroplasia available for analysis in this retrospective study. The patients had a median (interquartile range) age of 8 years (8 to 10), and 50% (14 of 28) were girls. The median follow-up time was 6 years (4 to 8). The median humeral lengthening was 9 cm (9 to 10) with a median elongation of 73% (67% to 78%) from an initial median length of 12 cm (11 to 13). To determine whether this treatment reliably improved patient function and autonomy, surgeons retrospectively evaluated patient charts. An unvalidated retrospective patient-reported outcome measure questionnaire consisting of nine items (with answers of "yes" or "no" or a 5-point Likert scale) was administered to assess the patient's functional improvement in activities of daily living, physical appearance, and overall satisfaction, such that 45 points was the highest possible score. The radiographic outcome was assessed on calibrated radiographs of the humerus. To ascertain the proportion of adverse events, study surgeons performed a chart review and telephone interviews. Major complications were defined as events that resulted in unplanned revision surgery, nerve injury (either temporary or permanent), refracture of the bone regenerate, or permanent functional sequelae. Minor complications were characterized as events that resolved without further surgical interventions. RESULTS: On our unvalidated assessment of patient function and independence, all patients reported improvement at their most recent follow-up compared with scores obtained before treatment (median [IQR] 24 [16 to 28] before surgery versus 44 [42 to 45] at latest follow-up, difference of medians 20 points, p < 0.001). A total of 89% (25 of 28) of patients achieved the desired 8 cm of lengthening in both arms. A total of 50% (14 of 28) of our patients experienced a major complication. Specifically, 39% (11 of 28) had an unplanned reoperation, 39% (11 of 28) had a radial nerve palsy, 18% (5 of 28) had a refracture of the regenerate, and 4% (1 of 28) concluded treatment with a severe limb length discrepancy. In addition, 82% (23 of 28) of our patients experienced minor complications that resolved without further surgery and did not involve radial nerve symptoms. Radial nerve palsy was observed immediately postoperatively in eight of 13 segments, and 1 to 7 days postoperatively in five of 13 segments. The treatment goal was not achieved because of radial nerve palsy in 5% (3 of 56) of lengthened segments, which occurred in 7% (2 of 28) of patients. Full functional recovery of the radial nerve was observed in all patients after a median (IQR) of 3 months (2 to 5). Refractures of bone regenerates were observed in 11% (6 of 56) of humeri in 18% (5 of 28) of patients. Of those refractures, 1 of 6 patients was treated nonsurgically with a hanging cast, while 5 of 6 patients underwent revision surgery with intramedullary rodding. CONCLUSION: Most patients with achondroplasia who underwent humeral lengthening achieved the treatment goal without permanent sequelae; nonetheless, complications of treatment were common, and the road to recovery was long and often complicated, with many patients experiencing problems that were either painful (such as refracture) or bothersome (such as temporary radial nerve palsy). However, using a subjective scale, patients seemed improved after treatment; nevertheless, robust outcomes tools are not available for this condition, and so we must interpret that finding with caution. Considering our discoveries, bilateral humeral lengthening with a monolateral external fixator should only be considered in patients with severe functional impairments because of rhizomelic shortening of the upper extremities. If feasible, internal lengthening devices might be preferable, as these are generally associated with higher patient comfort and decreased complication rates compared with external fixators. LEVEL OF EVIDENCE: Level IV, therapeutic study.

Mitral and tricuspid repair in an adult achondroplastic patient.

Achondroplasia is a rare genetic disorder with multiple anatomic abnormalities making surgery, and anesthesia more challenging. The reported cases of cardiac interventions in this population are few, and to the best of our knowledge, only 16 cases are documented. Herein, we represent the first case of mitral and tricuspid repair in one of these patients, which performed without the need for specific equipment with a smooth postoperative course.

Two-stage Bone Lengthening With Reuse of a Single Intramedullary Telescopic Nail in Patients With Achondroplasia.

BACKGROUND: Patients with achondroplasia may benefit from limb-lengthening surgery with telescopic intramedullary nails (TIMNs). However, the 5-cm maximum length of the nails used in these patients in their original design may be insufficient. The aim of this research is to analyze the outcomes and complications after reusing the same TIMN for a second consecutive 5-cm lengthening in patients with achondroplasia. METHODS: Retrospective study of 26 bones (16 femurs and 10 tibias) in 9 patients with achondroplasia treated for bilateral 2-stage sequential lengthening reusing the same TIMN. On completion of a first stage of 5 cm of elongation, the nail was unlocked, retracted, and re-locked; a second stage of 5 cm of distraction followed. Radiologic and clinical parameters were measured preoperatively and postoperatively, and complications were recorded. RESULTS: The median age of patients at first surgery was 13.54 (12.9 to 16.3) years; 55% were males. The median preoperative height was 121 (117.5 to 127) cm, and the median healing index was 18.12 (14.5 to 32.8) and 26.96 (23.3 to 31.6) d/cm, while time to weight bearing was 185.5 (144.8 to 308.5) and 242.5 (208.5 to 293.8) days for femurs and tibias, respectively. Major complications included 3 cases of moderate ankle equinus, 2 cases of hardware failure (failure to relengthen), 2 premature consolidations, 1 common peroneal neurapraxia, and 2 valgus deformities. Femoral procedures had significantly fewer complications than tibial interventions (7 vs. 15, P=0.03), whereas patients who underwent lengthening of both the femur and tibia did not have significantly higher complication rates (14 vs. 8, P=0.6). CONCLUSIONS: This study analyzes lower-limb lengthening in a series of achondroplastic patients using TIMN with the novelty of nail reuse to relengthen the bone. The complication rate found is acceptable, among which, potential damage to the internal lengthening mechanism must be considered, though this complication can usually be easily resolved. Overall, nail reuse seems advisable in cases where bone elongation is indicated, and the size and design of the nail limits the extent of lengthening. LEVEL OF EVIDENCE: Level III, retrospective comparative study, before and after intervention.

Long-Term Results of Posterior Vertebral Column Resection for Severe Thoracolumbar Kyphosis with Achondroplastic Patients: A Case Series.

Background and Objectives: Thoracolumbar kyphosis is one of the most frequent skeletal manifestations in patients with achondroplasia. Few papers have been published on the surgical treatment of this condition, especially in skeletally mature patients. With this study, we presented a retrospective case series of long-term surgical results for achondroplastic patients with severe thoracolumbar kyphosis. This study was conducted to evaluate the outcome of surgical treatment for thoracolumbar kyphosis in patients associated with achondroplasia presenting with paraparesis. Materials and Methods: Three patients with achondroplasia who developed neurologic deficits due to severe thoracolumbar kyphosis and underwent surgical treatment were evaluated (mean age 22.3 years; mean follow-up 9.3 years). All patients were treated with posterior vertebral column resection (p-VCR) of hypoplastic apical vertebrae with a cage and segmental instrumentation. Neurologic outcomes (JOA scores), correction of kyphosis, and operative complications were assessed. Results: All patients had back pain, neurological deficits, and urinary disturbance before surgery. The average preoperative JOA score was 8.3/11 points, which was improved to 10.7/11 points at the final follow-up (mean recovery rate 83%). All patients obtained neurologic improvement after surgery. The mean preoperative kyphotic angle was 117° (range 103°-126°). The postoperative angles averaged 37° (range 14°-57°), resulting in a mean correction rate of 67%. All patients had postoperative complications such as rod breakage and/or surgical site infection. Conclusions: The long-term results of p-VCR were acceptable for treating thoracolumbar kyphosis in patients with achondroplasia. To perform this p-VCR safely, spinal navigation and neuromonitoring are inevitable when resecting non anatomical fused vertebrae and ensuring correct pedicle screw insertion. However, surgical complications such as rod breakage and surgical site infection may occur at a high rate, making informed consent very important when surgery is indicated.

Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.

Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely performed in these patients. Here, we report the case of an 18-month-old boy with achondroplasia and progressive hydrocephalus who underwent ETV. He had a family history of achondroplasia and was diagnosed with achondroplasia at birth. Magnetic resonance imaging (MRI) at the age of 1 month showed no hydrocephalus. At the age of 15 months, he was admitted to our hospital due to increased head circumference. He had developmental delays, and MRI showed hydrocephalus with ballooning of the third ventricle. The ETV success score was 80 points; therefore, we performed ETV. Postoperatively, the progression of head circumference increase was controlled. The ventricular size remained unchanged on MRI at 13 months after surgery. Recently, an association between non-communicating hydrocephalus and achondroplasia has been reported. Depending on age and imaging findings, ETV may be effective in some patients with achondroplasia with hydrocephalus.

Upper Limb Lengthening in Achondroplasia Using Unilateral External Fixation.

PURPOSE: The purpose of this study was to analyze the long-term results of humeral lengthening in achondroplastic patients and make suggestions on the most appropriate surgical technique to improve patient outcomes. METHODS: Fifty-four humeral lengthening procedures performed in 27 achondroplastic patients were reviewed. Elongations were performed by means of callotasis with unilateral external fixation. Inclusion criteria were: achondroplastic patients under 17 years without prior arm operations and minimum follow-up of 36 months. RESULTS: Fifty humeri in 25 patients (13 men and 12 women), aged between 9 and 17 years, met the inclusion criteria. Mean humeral lengthening was 8.82 cm (range: 5 to 10.5 cm), which represented an elongation of 54.80% (range: 46% to 63%) of the original length. The healing index was 0.91 months (range: 0.72 to 1.4 mo) per centimeter gained. Shoulder and elbow range of motion and stability were preserved in 47 limbs. Noncomplicated cases consistently experienced a significant functional improvement in the performance of activities of daily living such as putting on footwear and personal hygiene. Short-term complications included 11 pin-tract infections, 1 radial nerve neuropraxia, and 1 failure of the regenerated bone formation. None of these complications prevented from completion of treatment. Long-term complications included 2 cases of nonunion, 3 elbow flexion contractures, and 2 cases of psychological dissatisfaction, all of them in 4 patients. Factors associated with long-term complications were intraoperative fragment displacement and distal humeral osteotomy. No fractures of the regenerated bone were identified in the long term. CONCLUSIONS: Callotasis with unilateral external fixation is a reliable and well-tolerated procedure for humeral lengthening in achondroplastic patients, with an acceptable complication rate. Guided fixator placement and a proximal humeral osteotomy are strongly recommended technical tips as they may help prevent complications and improve outcomes. LEVEL OF EVIDENCE: Level IV-case series.

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

BACKGROUND: Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current study evaluates the long-term results of the Chiari osteotomy in MED and PSACH patients. METHODS: Twenty patients (14 MED and 6 PSACH) were retrospectively included. Clinical assessment used the Postel Merle d'Aubigné (PMA) score and the Hip disability and Osteoarthritis Outcome Score (HOOS). Risser index, Sharp angle, acetabular depth index, center-edge angle, Tönnis angle, and femoral head coverage were measured on the preoperative radiographs and at last follow-up. The Treble index, which identifies the hip at risk in MED patients, was also determined. Stulberg classification (grades I to V) was used to evaluate the risk of osteoarthritis in the mature hips.Statistical analyses determined differences between preoperative and postoperative data. The Kaplan Meier method was used to calculate the survival rate of the operated hips using total hip arthroplasty as the endpoint. RESULTS: Thirty-three hips which underwent a Chiari osteotomy were reviewed. The average follow-up was 20.1 years. The PMA scores were significantly better at last follow-up than preoperatively. All radiographic parameters significantly improved. Moreover, the Sharp angle, center-edge angle, and femoral head coverage improved to a normal value at hip maturity. All of the operated hips had a Treble index of type I. At hip maturity, a majority of hip were aspherical congruent (Stulberg grades of III and IV). The survival rate of the operated hips was 80.7% at 24 years postoperative. CONCLUSIONS: The Chiari osteotomy is a satisfying solution for severe symptomatic hip lesions in MED and PSACH patients. At long-term follow-up, this procedure lessens pain and improves hip function, which delays total hip arthroplasty indication. LEVEL OF EVIDENCE: Level IV.

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.

The role of cervicomedullary decompression (CMD) in the care of hydrocephalic achondroplastic children who present with simultaneous foramen magnum stenosis is not well understood. We sought to determine the percentage of symptomatic achondroplastic children with foramen magnum stenosis who had stabilization or improvement in ventriculomegaly following CMD. The authors retrospectively reviewed the records of pediatric patients at Cedars-Sinai Medical Center with achondroplasia and signs of progressive ventriculomegaly who underwent CMD for symptomatic foramen magnum stenosis between the years 2000 and 2018. Clinical outcomes included changes in fontanelle characteristics, head circumference (HC) percentile, and incidence of ventriculoperitoneal (VP) shunting. Radiographic outcomes measured included changes in Evans ratio. We excluded individuals who were shunted before CMD from our study. Sixteen children presented with symptomatic foramen magnum stenosis and full anterior fontanelle or jump in the HC percentiles. Two children underwent placement of a VP shunt before decompressive surgery and were excluded from further analysis. Of the remaining 14 children who underwent CMD, 13 (93%) showed softening or flattening of their fontanelles post-operatively. Ten of these 14 children had both pre- and post-operative HC percentile records available, with 8 showing increasing HC percentiles before surgery. Seven of those eight children (88%) showed a deceleration or stabilization of HC growth velocity following decompression of the foramen magnum. Among 10 children with available pre- and post-operative brain imaging, ventricular size improved in 5 (50%), stabilized in 2 (20%), and slightly increased in 3 (30%) children after decompression. Two children (14%) required a shunt despite decompression of the foramen magnum. A significant proportion of children with concomitant signs of raised intracranial pressure or findings of progressive ventriculomegaly and foramen magnum stenosis may have improvement or stabilization of these findings following CMD. CMD may decrease the need for VP shunting and its associated complications in the select group of hydrocephalic children with achondroplasia presenting with symptomatic foramen magnum stenosis.

Trevor's disease of the distal radioulnar joint in two children with achondroplasia.

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Due to the infrequency of DEH, more research is needed to better understand the potential connection to achondroplasia. For management, we suggest shared surgical decision making based on symptoms.