Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia

Khan, Bilal I.; Yost, Mary; Badkoobehi, Haleh; Ain, Michael C.

doi:10.1016/j.jspd.2015.08.003

Cited by 29 publications

(20 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The literature regarding natural history, medical complications and morbidity rates in adults remains rather limited, as also reported by Thompson et al in 2008 . However, some larger studies have more recently been conducted on pain, HRQOL, orthopedics and spine, as shown in Table . In the following, we will discuss some of the key findings of the identified studies, as also presented in Tables and , including study limitations and identified knowledge gaps.…”

Section: Discussionmentioning

confidence: 81%

“…Mild scoliosis, defined as Cobbs angel >10°, was found in 55 of 98 adults, and moderate to severe scoliosis (Cobbs angel >25°) was found in 12/98 adults. Mild thoracolumbar kyphosis, defined as the curvature >10° to 25° at the thoracolumbar junction (T11‐L2), was seen in 26/98 adults, while severe thoracolumbar kyphosis (curvature >25°) was seen in 45/98 adult individuals …”

Section: Resultsmentioning

confidence: 99%

“…Mild thoracolumbar kyphosis, defined as the curvature >10 to 25 at the thoracolumbar junction (T11-L2), was seen in 26/98 adults, while severe thoracolumbar kyphosis (curvature >25 ) was seen in 45/98 adult individuals. 16 Bailey also found high prevalence of scoliosis and thoracolumbar kyphosis, but arthritis in hips, knees and ankles was not observed. 41 Conversely, in Mahomed et al (1998)…”

Section: Psychosocial Issuesmentioning

confidence: 91%

“…Six studies reported on orthopedic complications in adults. 14,16,29,30,38,41 Three of them concerned thoracolumbar kyphosis and scoliosis 16,38 and spine deformity, 30 of which one 38 was described in the systematic review by Engberts et al 12 Two studies reported on leg deformities and osteotomy, 29,30 another two on prevalence of arthritis, 30,41 and one study reported on ligament injuries in the knee. 14…”

Section: Orthopedic Complications and Bone Densitymentioning

confidence: 99%

“…38 Khan et al showed a much higher prevalence of scoliosis and thoracolumbar kyphosis in 98 adults with achondroplasia than reported in the general US population. 16 Mild scoliosis, defined as Cobbs angel >10 , was found in 55 of Prevalence might be about 20%-30%, 44a ,and increases with age 29,38 Symptom-start often before 30 years of age 38 Rapid progression 22,38 Primarily a central stenosis 23 Both clinical and radiological assessment recommended for diagnosis 27 Proportion needing spinal stenosis surgery up to 30% 30,44 Orthopedic complications and bone density • Thoracolumbar kyphosis prevalence ≈50% 16,38 • Mild scoliosis prevalence ≈50%. Moderate to severe scoliosis prevalence ≈10% 16 • Osteoarthritis: not found in one study, 41 ≈33% in another study 30 • Low prevalence of cruciate ligament injuries 14 • Osteopenia reported 17,19 b Obesity and body composition • High BMI 18,22,24,25,32 • Abdominal obesity 32 • Normal triglycerides 32 • Low prevalence of diabetes 32 Respiratory disorders and sleep apnea • Lung volume and vital capacity reduced, but not physiologically relevant 34,35 • Sleep apnea: no studies found on adults Hearing, voice and vision • Impaired hearing reported in 33%-55% of adults 20,30 • Voice-abnormalities may be common, 31b • Strabismus may be common, 40b…”

Section: Kahanovitz Et Al Found That Kyphosis At the Thoracolumbar Jumentioning

confidence: 99%

See 4 more Smart Citations

Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

View full text Add to dashboard Cite

This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice. K E Y W O R D S achondroplasia, adults, health-related quality of life, health status, medical complications, review

show abstract

Section: Discussionmentioning

confidence: 81%

Section: Resultsmentioning

confidence: 99%

Section: Psychosocial Issuesmentioning

confidence: 91%

Section: Orthopedic Complications and Bone Densitymentioning

confidence: 99%

Section: Kahanovitz Et Al Found That Kyphosis At the Thoracolumbar Jumentioning

confidence: 99%

See 3 more Smart Citations

Current knowledge of medical complications in adults with achondroplasia: A scoping review

et al. 2019

View full text Add to dashboard Cite

show abstract

Kongenitale Kyphosen, Kyphosen bei Systemerkrankungen

Hasler¹

2020

Orthopädie Und Unfallchirurgie

View full text Add to dashboard Cite

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities

Soğukpınar,

Demir,

Utine

et al. 2024

Eur J Pediatr

View full text Add to dashboard Cite

Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3; MIM*134,934), is the most prevalent and most readily identifiable cause of disproportionate short stature that is compatible with life. In addition, individuals with achondroplasia face significant medical, functional, and psychosocial challenges throughout their lives. This study assessed associated morbidities in patients with achondroplasia at a single center in Turkey. In this study, the clinical findings and associated morbidities of a group of patients with achondroplasia (n = 68) with clinical multidisciplinary follow-up at a single center between the years 2005–2023 are evaluated retrospectively. A total of 68 patients, 30 male (44.1%) and 38 female (55.9%), were evaluated. In the majority (84.2%) of patients, shortness of extremities was detected in the prenatal period at an average of 28.7 gestational weeks (± 3.6 SDS) with the aid of ultrasonography. More than half (n = 34/63, 54%) of the patients had a father of advanced paternal age (≥ 35 years). Among the complications, respiratory system manifestations, including obstructive sleep apnea (70%), ear-nose-throat manifestations including adenoid hypertrophy (56.6%) and otitis media (54.7%), neurological manifestations due to foramen magnum stenosis (53.2%), and skeletal manifestations including scoliosis (28.8%), are represented among the most common. The mortality rate was 7.3% (n = 5/68).Conclusion: This study not only represents the first retrospective analysis of the associated morbidities of patients with achondroplasia from a single center in Turkey but also will provide a reference point for future studies.

show abstract

Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia

Abstract: Level 3 or 4.

Cited by 29 publications

References 14 publications

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Kongenitale Kyphosen, Kyphosen bei Systemerkrankungen

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities

Contact Info

Product

Resources

About