Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience

Ginebreda, Ignacio; Campillo-Recio, David; Cardenas, Carlomagno; Tapiolas, J; Rovira, Pedro Sánchez; Isart, Anna

doi:10.1007/s12306-018-0583-3

Cited by 10 publications

(13 citation statements)

References 20 publications

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“…For example, growth hormone treatment in ACH contributes to a relatively limited gain in final adult height, and no clear long-term benefits on body proportionality have been established [18,19]. In some countries, patients with ACH receive limb lengthening procedures that increase lower and upper limb length with the aim of improving stature and body proportionality [5,[20][21][22]. These procedures typically require multiple surgeries, extended recovery time, risk of infection, and other complications related to stretching of non-skeletal tissues including nerves and blood vessels [5,[23][24][25].…”

Section: Introductionmentioning

confidence: 99%

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Constantinides

Landis

Jarrett

et al. 2021

Disability and Rehabilitation

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Purpose: Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH individuals compared to average stature individuals or other short stature conditions. Studies that assess the association between these outcomes and height, limb length/lengthening surgery in ACH patients are also summarized. Materials and methods: PubMed/MEDLINE and Embase were searched through April 2021. Study inclusion criteria were: (1) quantitative design; (2) study population consisting solely/mainly of ACH patients;(3) reports of physical functioning, psychosocial functioning, and/or QoL. Included studies were summarized separately for pediatric and adult populations. Results: Of 1664 records identified, 23 primary studies (sample size 8-437 participants) were included. Multiple tools were used across studies, including the generic PedsQL and SF-36 and height-specific QoLISSY. Conclusions: The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span. This appeared to be at least in part due to disproportionate short stature. Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions. ä IMPLICATIONS FOR REHABILITATIONPatients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals. Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia. The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters. Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools.

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Section: Introductionmentioning

confidence: 99%

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Constantinides

Landis

Jarrett

et al. 2021

Disability and Rehabilitation

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“…Lengthening of the humeri can improve independence and personal hygiene [3,[50][51][52][53]. • Bilateral humeral lengthening improves independence and body proportion in patients with achondroplasia [54][55][56][57]. • Flexion deformity of the elbow is a frequent finding in patients with achondroplasia and can be corrected simultaneously while lengthening [58].…”

Section: Recommendations Related To the Orthopedic Concernsmentioning

confidence: 99%

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

et al. 2022

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Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts’ recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries. Methods Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia. Results Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included. Conclusions This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.

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“…This may worsen preexisting functional impairments, such as difficulties in putting on shoes [11]. Upper limb lengthening may help overcome these impediments and improve the proportion of the limbs [1,6,10].…”

Section: Introductionmentioning

confidence: 99%

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

Laufer

Rölfing

Gosheger

et al. 2022

Clin Orthop Relat Res

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BackgroundMany 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?MethodsBetween 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.ResultsOn our unvalidated assessment of patient function and independence, all patients reported improvement at their most recent follow-up co...

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Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience

Cited by 10 publications

References 20 publications

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

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

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