Introduction: The short stature characteristic of patients with achondroplasia can negatively affect health-related quality of life (HRQoL). Lower limb lengthening reusing telescopic intramedullary nails (TIMNs) offers an alternative to external fixators, with the potential to enhance functionality, self-esteem, and HRQoL, while reducing complication risks, which this study aims to evaluate.
Materials And Methods: This retrospective study included nine patients with achondroplasia who underwent parallel transverse lengthening of femurs and/or tibias reusing a TIMN between 2015 and 2022. Functionality (Lower Extremity Functional Scale, LEFS), self-esteem (Rosenberg Self-Esteem Scale), and HRQoL (Short Form-12, SF-12, and EuroQol VAS) were assessed preoperatively and at least two years post-surgery. Complications (Clavien-Dindo-Sink classification) and patient satisfaction were also recorded.
Results: The median age was 13.5 years (IQR: 12.5-17.1), with a significant height increase of +19.9 cm +19.9 cm (p<0.05). Improvements were significant in functionality (LEFS, +4.6 points; p<0.05), self-esteem (Rosenberg, +3.7 points; p<0.05), and HRQoL (SF-12 physical, +8.9 points; p<0.05; EQ-VAS, +20 points; p<0.05). A total of 22 complications were reported in 32 treated bones, most classified as grade 2 or 3B, with no significant correlation to functionality, HRQoL, or self-esteem outcomes (p > 0.05).
Conclusions: Lower limb lengthening reusing TIMNs appears to improve functionality, HRQoL, and self-esteem in patients with achondroplasia compared to their preoperative status. High patient satisfaction and manageable complications were observed, with no negative impact on outcomes, laying the groundwork for future studies. LEVEL OF EVIDENCE Level IV, Retrospective case series.
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http://dx.doi.org/10.1016/j.recot.2025.01.001 | DOI Listing |
Rev Esp Cir Ortop Traumatol
January 2025
Servicio de Cirugía Ortopédica y Traumatología. Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Introduction: The short stature characteristic of patients with achondroplasia can negatively affect health-related quality of life (HRQoL). Lower limb lengthening reusing telescopic intramedullary nails (TIMNs) offers an alternative to external fixators, with the potential to enhance functionality, self-esteem, and HRQoL, while reducing complication risks, which this study aims to evaluate.
Materials And Methods: This retrospective study included nine patients with achondroplasia who underwent parallel transverse lengthening of femurs and/or tibias reusing a TIMN between 2015 and 2022.
J Clin Endocrinol Metab
January 2025
Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Delaware, 1600 Rockland Road, Wilmington, DE, 19803, USA.
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.
View Article and Find Full Text PDFNat Rev Endocrinol
January 2025
Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.
View Article and Find Full Text PDFMed
December 2024
BioMarin (UK) Limited, Ltd., London, UK.
Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.
Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.
BMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
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.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!