Twenty-three patients with achondroplasia were evaluated using short-latency somatosensory evoked potentials (SEPs) of median and peroneal nerves. Abnormal studies were found in 61%. All patients with neurologic signs or symptoms had abnormal SEPs, with good correlation between SEP results and the level of the lesion determined clinically and radiographically. SEPs were abnormal in 44% of neurologically intact achondroplasts, several of whom had CTs confirming significant foramen magnum stenosis. SEPs are an important noninvasive means of evaluating patients with achondroplasia and are particularly valuable in children to document neurologic compromise before significant and perhaps irreversible clinical impairment develops.
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http://dx.doi.org/10.1212/wnl.34.8.1053 | DOI Listing |
Brain Spine
December 2024
Department of Neurosurgery, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Introduction: Thoracolumbar kyphosis (TLK) is a frequently reported spinal deformity in achondroplasia, which in combination with the characteristic narrow spinal canal in achondroplasia predisposes for symptomatic spinal stenosis. There is however no consensus on the optimal treatment, due to limited data on diagnostic criteria, the natural development and the prevalence of TLK.
Research Question: This study aims to assess the prevalence, natural development, and diagnostic criteria for pathological TLK in individuals with achondroplasia.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi
January 2025
Department of Orthopedics, Rehabilitation Hospital of the National Research Center for Rehabilitation Technical Aids, Beijing, 100176, P. R. China.
Objective: To describe the characteristics of short arm deformity in patients with achondroplasia, and summarize the progress of its lenthening and reconstruction, so as to provide reference for clinical diagnosis and treatment.
Methods: The literature on the lenthening of upper limb with achondroplastic short arm deformity at home and abroad in recent years was reviewed, and the characteristics, extension methods, postoperative management, effectiveness evaluation, and related complications of short arm deformity were summarized.
Results: Achondroplastic short arm deformity affect the patient's daily perineal hygiene activities.
Sleep Breath
January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
View Article and Find Full Text PDFRev 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.
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