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Winner of an Honorable Mention in the Clinical Medicine category of the Professional and Scholarly Publishing Awards given by the Association of American Publishers At a time when medical technologies make it ever easier to enhance our minds and bodies, a debate has arisen about whether such efforts promote a process of \"normalization, \" which makes it ever harder to tolerate the natural anatomical differences among us. The debate becomes especially complicated when it addresses the surgical alteration, or \"shaping, \" of children. This volume explores the ethical and social issues raised by the recent proliferation of surgeries designed to make children born with physical differences look more normal. Using three cases—surgeries to eliminate craniofacial abnormalities such as cleft lip and palate, surgeries to correct ambiguous genitalia, and surgeries to lengthen the limbs of children born with dwarfism—the contributors consider the tensions parents experience when making such life-altering decisions on behalf of or with their children. The essays in this volume offer in-depth examinations of the significance and limits of surgical alteration through personal narratives, theoretical reflections, and concrete suggestions about how to improve the decision-making process. Written from the perspectives of affected children and their parents, health care providers, and leading scholars in philosophy, sociology, history, law, and medicine, this collection provides an integrated and comprehensive foundation from which to consider a complex and controversial issue. It takes the reader on a journey from reflections on the particulars of current medical practices to reflections on one of the deepest and most complex of human desires: the desire for normality. Contributors Priscilla Alderson, Adrienne Asch, Cassandra Aspinall, Alice Domurat Dreger, James C. Edwards, Todd C. Edwards, Ellen K. Feder, Arthur W. Frank, Lisa Abelow Hedley, Eva Fedder Kittay, Hilde Lindemann, Jeffery L. Marsh, Paul Steven Miller, Sherri G. Morris, Wendy E. Mouradian, Donald L. Patrick, Nichola Rumsey, Emily Sullivan Sanford, Tari D. Topolski

BackgroundAchondroplasia is associated with foramen magnum stenosis (FMS) and significant risk of morbidity and sudden death in infants. A sensitive and reliable method of detecting infants who require decompressive surgery is required. This study aims to describe the incidence and severity of FMS in an unselected, sequential series of infants using a novel MRI score and retrospectively correlate severity with clinical examination and cardiorespiratory sleep (CRS) studies.MethodsThe Achondroplasia Foramen Magnum Score (AFMS) was developed and scores were retrospectively correlated with clinical and CRS data over a 3-year period.ResultsOf 36 infants (M:F, 18:18), 2 (5.6%) did not have FMS (AFMS0); 13 (36.1%) had FMS with preservation of the cerebrospinal fluid (CSF) spaces (AFMS1); 3 (8.3%) had FMS with loss of the CSF space but no spinal cord distortion (AFMS2); 13 (36.1%) had FMS with flattening of the cervical cord without signal change (AFMS3); and 5 (13.9%) had FMS resulting in cervical cord signal change (AFMS4). Mean Total Apnea and Hypopnea Index (TAHI) for AFMS0–4 was 3.4, 6.41, 2.97, 10.5 and 25.8, respectively. Severe TAHI had a specificity of 89% but only a 59% sensitivity for AFMS3–4. Neurological examination was normal in 34/36 (94%) patients. Overall, 9/36 (25%) infants required neurosurgery with minimal surgical complications.ConclusionsClinical examination and CRS have a low sensitivity for predicting the effects of foramen stenosis on the spinal cord. Routine screening with MRI using AFMS can aid in detecting early spinal cord changes and has the potential to reduce infant morbidity and mortality.

IntroductionForamen magnum stenosis in achondroplasia carries a risk of sudden death. A proportion of these patients benefit from foramen magnum decompression (FMD). The Achondroplasia Foramen Magnum Score (AFMS) was developed to stratify those most at risk. We hypothesise that this score may be reflected in neurophysiological findings.MethodsPatients with achondroplasia who had undergone FMD (n=20) were retrospectively grouped into AFMS 2, 3 and 4. Amplitude from tibialis anterior (TA) and the percentage change in somatosensory evoked potential (SSEP) latency after FMD were reported.ResultsBaseline motor evoked potential amplitudes for patients with AFMS=4 were significantly lower left (p=0.0017 and p=0.02 for right and left TA, respectively) compared with AFMS grades 2 and 3. Median reduction (% change) in SSEP latency (ms) after surgery was not significantly different in any of the patients.ConclusionsThis short report cross-references AFMS to intraoperative neuromonitoring. Baseline amplitudes were noticeably lower in the most severe AFMS group. This observation supports the notion that AFMS can help risk stratify patients and aid in surgical selection.

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.

Background Achondroplasia is the most common form of disproportionate short stature and can lead to serious medical complications, including foramen magnum and spinal stenosis. Until 2021, there were no precision treatments available, and in some countries, elective surgery was considered a standard approach to increase height, improve body proportions, enhance functionality, and correct deformities in a selected group of patients. Recently, C-type natriuretic peptide (CNP) has been explored as a potential treatment, aiming to counteract the molecular activity driven by FGFR3. Although post-market and real-world data on the drug are still limited, many questions remain about the potential for combining pharmacological and surgical therapies and how this might influence patient outcomes. Concerns have also been raised regarding the potential impact of drugs on bone healing. However, anecdotal evidence from orthopaedic practice suggests that the two ossification processes do not interfere with one another. The aim of this study was to describe the first real-world case series in which vosoritide treatment was integrated with limb surgery in children and adolescents with achondroplasia. Results Sixteen paediatric patients with molecular confirmation of achondroplasia were included in the study. All patients underwent combined vosoritide therapy and limb surgeries (13 for lower limb lengthening and 3 for varus correction through epiphysiodesis).The complementary roles of vosoritide therapy and surgery were highlighted, with treatment outcomes aligning closely with expectations. Conclusion This report provides the first clinical description of the combination of precision therapy with limb surgery in a relatively large multicentre cohort of paediatric patients with achondroplasia. These findings support continued exploration of the integration of different therapeutic approaches.

Background Achondroplasia is the most common form of skeletal disorder with disproportionate short stature. Vosoritide is the first disease-specific, precision pharmacotherapy to increase growth velocity in children with achondroplasia. Limb surgery is a standard approach to increase height and arm span, improve proportionality and functionality, as well as correcting deformities. The aim of this study was to gain expert opinion on the combined use of vosoritide and limb surgery in children and adolescents with achondroplasia. Methods An international expert panel of 17 clinicians and orthopaedic surgeons was convened, and a modified Delphi process undertaken. The panel reviewed 120 statements for wording, removed any unnecessary statements, and added any that they felt were missing. There were 26 statements identified as facts that were not included in subsequent rounds of voting. A total of 97 statements were rated on a ten-point scale where 1 was ‘Completely disagree’ and 10 ‘Completely agree’. A score of ≥ 7 was identified as agreement, and ≤ 4 as disagreement. All experts who scored a statement ≤ 4 were invited to provide comments. Results There was 100% agreement with several statements including, “Achieve a target height, arm span or upper limb length to improve daily activities” (mean level of agreement [LoA] 9.47, range 8–10), the “ Involvement of a multidisciplinary team in a specialist centre to follow up the patient” (mean LoA 9.67, range 7–10), “ Planning a treatment strategy based on age and pubertal stage” (mean LoA 9.60, range 8–10), and “ Identification of short- and long-term goals, based on individualised treatment planning” (mean LoA 9.27, range 7–10), among others. The sequence of a combined approach and potential impact on the physes caused disagreement, largely due to a lack of available data. Conclusions It is clear from the range of responses that this modified Delphi process is only the beginning of new considerations, now that a medical therapy for achondroplasia is available. Until data on a combined treatment approach are available, sharing expert opinion is a vital way of providing support and guidance to the clinical community.

IntroductionSurgical lengthening and angular correction of the limbs are an option for treating the orthopedic clinical manifestations in patients with achondroplasia. This study assesses a staged limb lengthening protocol, performing simultaneous bilateral lengthening of the femur and tibia (stage I [S1]), and humeral lengthening (stage II [S2]).Materials and methodsTwenty-one achondroplastic patients were included in this study, and 106 segments (34 femurs, 34 tibias and 38 humeri) were lengthened. Achondroplasia patients with a growth curve below the mean of the standard growth curves for achondroplasia were included in S1. The remaining patients were included directly in S2. Variables analyzed included anthropometric measurements, lengthening outcomes, difficulties, and functionality.ResultsOf the all patients included in the protocol, 15 patients completed S1 and S2, 4 only completed S2, and 2 only completed S1. Height and limb–trunk ratio before S1 were 107.65 ± 7.14 cm and 1.89 ± 0.10 and after S1 were 126.50 ± 9.19 cm and 1.64 ± 0.09, respectively. Limbs were lengthened 14.43 ± 1.41 cm (femurs and tibias) for S1 and 9.95 ± 0.60 cm for S2 (humeri), with a stage healing index of 18.23 ± 3.54 in S1 and 28.92 ± 4.42 in S2. Correction of lower angular deviations, functional improvement, and a controlled complications rate were achieved in all patients.ConclusionsThe limb lengthening protocol proposed in this study is a suitable treatment for achondroplasia patients to achieve the agreed-upon objectives (limb–trunk ratio, improved functionality, and lower limb alignment). The reproducibility of the procedure and patient safety were upheld.

Background Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life. However, reports on Methicillin-Resistant Staphylococcus aureus (MRSA) infections in femoral nonunions at lengthening sites are scarce. Case presentation A 15-year-old boy with achondroplasia presented with MRSA-infected femoral nonunion. Bilateral femoral lengthening had been performed at age 13 using unilateral external fixators. Following a 7 cm lengthening of the right femur, surgical site infection occurred, with MRSA detected on postoperative day 127. Despite debridement and autologous iliac bone graft with non-locking screws, nonunion persisted. Referred to our hospital at age 15, the patient underwent radical debridement until punctate bleeding appeared, and vancomycin-loaded cement beads were implanted. A circular external fixator, effective even with bone weakened by prolonged non-weight bearing, was applied. Six weeks later, further debridement and vancomycin bead replacement were performed. Final fixation included refreshing the nonunion site and placing a cancellous bone graft from the contralateral iliac bone. Bone fusion progressed, and the ring was removed 9 months post-surgery. After seven years, no recurrence of infection was noted. Although slight knee flexion limitation persisted, the patient experiences no pain while walking and has become a healthy working adult. Conclusion This case highlights the effectiveness of radical debridement, antibiotic-loaded cement beads, autologous bone grafting, and circular external fixation in treating MRSA-induced nonunion at femoral lengthening sites in achondroplasia. Circular external fixators provide stable fixation even in cases of prolonged bone weakness.

The work aimed to evaluate the effectiveness of the developed distraction system based on the rod external monolateral fixation mechanisms by comparing it with the classical technique of long tubular bones distraction based on the circular multi-axial system. The study included patients with a genetically confirmed diagnosis of achondroplasia. The experimental group consisted of 14 patients who underwent surgical limb lengthening by the rod monolateral external fixator with a distraction system developed by the authors. The lengthening was performed on 28 segments of tubular bones. The majority of the experimental group patients achieved the lengthening value close to the planned one and the deformation correction. The fixation period was averagely 83.8 ± 3.7 days, the regenerate length was 8.5 ± 0.6 cm, and the mechanical strength of the distraction regenerate was 10.3° ± 2.18°. The rod external fixator with a control distraction system developed by the authors has small dimensions and low weight of the external supporting elements of high durability. It is reported to provide a good psychological tolerance of the treatment process and significantly outperforms the circular multi-axis system. Considering the aforementioned, the proposed apparatus can grant good orthopedic care to patients with achondroplasia.

Achondroplasia causes narrowing of the foramen magnum and the spinal canal leading to increased mortality due to cervicomedullary compression in infants and significant morbidity due to spinal stenosis later in adulthood. Vosoritide is a C-natriuretic peptide analogue that has been shown to improve endochondral ossification in children with achondroplasia. The objective of this trial is to evaluate the safety of vosoritide and whether vosoritide can improve the growth of the foramen magnum and spinal canal in children that may require decompression surgery. An Achondroplasia Foramen Magnum Score will be used to identify infants at risk of requiring decompression surgery. This is a 2-year open label randomized controlled trial of vosoritide in infants with achondroplasia ages 0 to ≤12months. Approximately 20 infants will be randomized 1:1 to either open label once daily subcutaneous vosoritide combined with standard of care or standard of care alone. The primary and secondary aims of the study are to evaluate the safety and efficacy of vosoritide in children with cervicomedullary compression at risk of requiring decompression surgery. The trial will be carried out in specialized skeletal dysplasia treatment centers with well established multidisciplinary care pathways and standardized approaches to the neurosurgical management of cervicomedually compression. After 2 years, infants randomized to standard of care alone will be eligible to switch to vosoritide plus standard of care for an additional 3 years. This pioneering trial hopes to address the important question as to whether treatment with vosoritide at an early age in infants at risk of requiring cervicomedullary decompression surgery is safe, and can improve growth at the foramen magnum and spinal canal alleviating stenosis. This in turn may reduce compression of surrounding structures including the neuraxis and spinal cord, which could alleviate future morbidity and mortality.