The Clinical Spectrum of Lumbar Spine Disease in Achondroplasia

Kahanovitz, Neil; Rimoin, David L.; Sillence, David

doi:10.1097/01241398-198208000-00048

Cited by 19 publications

(39 citation statements)

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“…The phenotype comprises rhizomelic limb shortness; relatively long narrow trunk compared with limbs; enlarged head with frontal bossing; depressed nasal bridge; midface hypoplasia; and short, broad hands with a trident configuration. Frequently associated musculoskeletal anomalies include thoracolumbar kyphosis, lumbar spinal stenosis, foramen magnum stenosis, bowed legs, radial head subluxation, hypotonia, and ligament laxity [Aryanpur et al, 1990;Kahanovitz et al, 1982;Morgan and Young, 1980;Pauli et al, 1995;Reid et al, 1987;Rimoin, 1995]. Intelligence is unaffected by the basic defect.…”

Section: Introductionmentioning

confidence: 96%

Functional health status of adults with achondroplasia

1998

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Little is known regarding the functional health status of individuals with achondroplasia. This cross-sectional survey of adults with achondroplasia was undertaken to assess the functional health status of this population and its determinants. The study sample consisted of members of the Little People of America (LPA) who completed a mailed questionnaire consisting of a demographics component, a general and disease-specific comorbidities component, and the Short Form 36 (SF-36) health status questionnaire. Univariate analyses and multivariate linear regression models were used for data analysis. Four hundred thirty-seven individuals with a mean age of 38 years completed the survey. The age- and gender-adjusted Mental Component Summary (MCS) scores did not significantly differ from those of the general population. In contrast, the age- and gender-adjusted Physical Component Summary (PCS) scores were significantly lower than the general population starting in the fourth decade of life. Musculoskeletal diseases were most prevalent and had the greatest impact on the PCS scores. Two-thirds of this cohort had undergone at least one operation. Only musculoskeletal procedures were significantly associated with PCS and MCS scores. The functional health status of adults with achondroplasia, as measured by the SF-36, is not drastically reduced in comparison with that of the general U.S. population.

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Section: Introductionmentioning

confidence: 96%

Functional health status of adults with achondroplasia

1998

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“…There is a positive correlation between the presence of kyphosis and both the incidence and severity of symptomatic spinal stenosis, 2 although the magnitude of the deformity does not correlate with the amount of neurologic deficit. 2,5,6 Behavioral modification and the use of an orthosis appear to be effective in reducing deformity and alleviating symptoms. [7][8][9] However, nonoperative treatment fails for some patients, and persistent kyphotic deformities in the pediatric population have been treated successfully with posterior arthrodesis to prevent additional neurologic deterioration.…”

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confidence: 96%

Spinal Arthrodesis With Instrumentation for Thoracolumbar Kyphosis in Pediatric Achondroplasia

Ain

Browne

2004

Spine

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“…Lumbar spinal stenosis may be the main etiology of neurological claudication in achondroplasia, but generally occurs only after early adulthood (Bethem et al 1981). The short pedicle and reduced inter-pedicle distance reduce the size of the spinal canal, both anteroposteriorly and transversely (Kahanovitz et al 1982, Pyeritz et al 1987, Fortuna et al 1989, Savini et al 1991, Thomeer and van Dijk 2002. Factors related to ageing, such as herniation of the intervertebral disc, increasing lumbar lordosis, degenerative facet joint, and progressive thoracolumbar kyphosis, contribute to the development of neural symptoms (Savini et al 1991).…”

Section: Discussionmentioning

confidence: 99%