Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis

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 limit...

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Main Authors: Chady Omara, Rania A. Mekary, Carmen L.A. Vleggeert-Lankamp
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Brain and Spine
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772529424014334
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author Chady Omara
Rania A. Mekary
Carmen L.A. Vleggeert-Lankamp
author_facet Chady Omara
Rania A. Mekary
Carmen L.A. Vleggeert-Lankamp
author_sort Chady Omara
collection DOAJ
description 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. Material and methods: A systematic review and meta-analysis were conducted. Studies involving achondroplasia patients, which reported TLK measurement methods were included. The primary outcome was the pooled prevalence of TLK, stratified by age. Results: Eight studies, encompassing 852 patients, met the inclusion criteria. Pathological TLK was most frequently defined as a Cobb angle of 20° or greater, between T10 and L2. TLK was present in 87% (95% CI 80%–91%) of patients under two years old, decreasing to 33% (24%–43%) at age three, 26% (19%–35%) between five and ten years, and 23% (16%–31%) in patients aged 10–20 years. Discussion and conclusion: Pathological TLK in achondroplasia, defined as a Cobb angle of 20° or greater, appears primarily in early childhood and often resolves by walking age. However, approximately one-fourth of cases persist into adulthood, with factors such as developmental motor delay and vertebral wedging contributing to this persistence. Routine clinical and radiological evaluations during childhood, along with conservative management, are recommended to mitigate the need for surgery during adulthood.
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spelling doaj-art-34c51890008e452090c720497c1d9fc22025-01-08T04:53:50ZengElsevierBrain and Spine2772-52942025-01-015104177Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysisChady Omara0Rania A. Mekary1Carmen L.A. Vleggeert-Lankamp2Department of Neurosurgery, Leiden University Medical Center (LUMC), Leiden, the Netherlands; Department of Neurosurgery, Computational Neurosciences Outcome Center (CNOC), Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Corresponding author. Department of Neurosurgery, Leiden University Medical Center (LUMC), Leiden,Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.Department of Neurosurgery, Computational Neurosciences Outcome Center (CNOC), Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; School of Pharmacy, Massachusetts College of Pharmacy and Health Sciences (MCPHS) University, Boston, MA, USADepartment of Neurosurgery, Leiden University Medical Center (LUMC), Leiden, the Netherlands; Department of Neurosurgery, Computational Neurosciences Outcome Center (CNOC), Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Department of Neurosurgery, Spaarne Hospital, Hoofddorp, Haarlem, the NetherlandsIntroduction: 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. Material and methods: A systematic review and meta-analysis were conducted. Studies involving achondroplasia patients, which reported TLK measurement methods were included. The primary outcome was the pooled prevalence of TLK, stratified by age. Results: Eight studies, encompassing 852 patients, met the inclusion criteria. Pathological TLK was most frequently defined as a Cobb angle of 20° or greater, between T10 and L2. TLK was present in 87% (95% CI 80%–91%) of patients under two years old, decreasing to 33% (24%–43%) at age three, 26% (19%–35%) between five and ten years, and 23% (16%–31%) in patients aged 10–20 years. Discussion and conclusion: Pathological TLK in achondroplasia, defined as a Cobb angle of 20° or greater, appears primarily in early childhood and often resolves by walking age. However, approximately one-fourth of cases persist into adulthood, with factors such as developmental motor delay and vertebral wedging contributing to this persistence. Routine clinical and radiological evaluations during childhood, along with conservative management, are recommended to mitigate the need for surgery during adulthood.http://www.sciencedirect.com/science/article/pii/S2772529424014334AchondroplasiaDeformityDwarfismThoracolumbar kyphosisThoracolumbar spine
spellingShingle Chady Omara
Rania A. Mekary
Carmen L.A. Vleggeert-Lankamp
Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis
Brain and Spine
Achondroplasia
Deformity
Dwarfism
Thoracolumbar kyphosis
Thoracolumbar spine
title Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis
title_full Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis
title_fullStr Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis
title_full_unstemmed Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis
title_short Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis
title_sort prevalence and natural development of thoracolumbar kyphosis in achondroplasia a systematic review and meta analysis
topic Achondroplasia
Deformity
Dwarfism
Thoracolumbar kyphosis
Thoracolumbar spine
url http://www.sciencedirect.com/science/article/pii/S2772529424014334
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