Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Abstract

OBJECTIVE:This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads to phenotypic changes in patients, including neurodevelopmental impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, urological dysfunctions, and bone and joint dysfunctions.METHODS:A total of 41 patients diagnosed with Williams-Beuren syndrome, who were followed up at the genetics ambulatory center of a large referral hospital, were included in the study. There were 25 male subjects. The patients were examined and submitted to radiographic investigation for Cobb angle calculation.RESULTS:It was observed that 14 patients had scoliosis; of these 14 patients, 10 were male. The pattern of deformity in younger patients was that of flexible and simple curves, although adults presented with double and triple curves. Statistical analysis showed no relationships between scoliosis and age or sex.CONCLUSION:This study revealed a prevalence of scoliosis in patients with Williams-Beuren syndrome of 34.1%; however, age and sex were not significantly associated with scoliosis or with the severity of the curves.

Postural care for people with intellectual disabilities and severely impaired motor function: A scoping review

“…cerebral palsy) where results not disaggregated for people with intellectual disabilities In view of extremely specific issues related to postural care for people with relatively rare syndromes associated with intellectual disabilities (e.g. Williams–Beuren syndrome where mutation of the elastin gene leads to phenotypic changes in patients, including bone and joint dysfunctions (Damasceno et al., )), studies relating only to people with relatively rare specific syndromes associated with intellectual disabilities were excluded (with the exception of Down syndrome which is the most common genetic cause of intellectual disability (Sherman, Allen, Bean, & Freeman, )) Postural issues in those who are ambulatory, for example gait, postural balance/falls, mobility programmes, sleep position in those who are ambulatory Micro switch technology unless specifically related to postural care Medical genetics Research on wheelchairs not specifically related to postural care (e.g. benefits of powered wheelchairs, interventions to facilitate independent wheelchair use) Surgery relating to primary conditions rather than posture per se, for example hip replacement due to osteoarthritis Studies relating to scale development (e.g.…”

“…<25%; Cans et al, 1999) of those with intellectual disabilities requiring postural care will have cerebral palsy. Indeed, a number of specific conditions related to intellectual disabilities may result in the need for postural care (Ager et al, 2006;Burns, Powell, Hsia, & Reinker, 2003;Butler et al, 2002;Damasceno, Cristante, Marcon, & Barros Filho, 2014;Detweiler, Thacker, Hopkins, Conway, & Gripp, 2013;Imagama et al, 2013;Karmaniolou, Krishnan, Galtrey, Cleland, & Vijayaraghavan, 2015;Kerr, Webb, Prescott, & Milne, 2003;Laurier et al, 2015;Li, Shen, Liang, & Sheng, 2015;de Lind van Wijngaarden, de Klerk, Festen, & Hokken-Koelega, 2008;Takebayashi et al, 2006).…”

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies

“…Rather, most of the data currently in the literature derive from clinical assessments or a doctor's clinical impressions. In addition, the etiology (or etiologies) underlying most of the MSK abnormalities seen in WS are not known, although the mutation/deletion of the elastin gene has been hypothesized to have broad effects on the musculoskeletal system (Damasceno et al, ). In all likelihood many of the findings we describe have complex origins, due to as yet unknown interactions between loss of one or more of the genes responsible for WS which, in turn, variously perturbs development and/or function of the neurological, skeletal, connective tissue, and muscular systems.…”

Dental management in Williams-Beuren syndrome: Case report

“…9 In addition, common features include supravalvular aortic stenosis, mental retardation, learning disabilities, growth delay, infantile hypercalcemia, 4,8,10,11 hyperacusis, feeding difficulties, scoliosis and strabismus. 6,8,9,11 Patients also show some abnormalities both in primary and permanent teeth: a high incidence of caries, malocclusions, enamel hypoplasia, supernumerary teeth, oligodontia, microdontia, taurodontism, pulp stones, excessive interdental spacing, shorts roots and aberrant tooth shape including peg-shaped teeth. 3 Diagnosis of Williams-Beuren syndrome is based on recognition of the aforementioned characteristics and there is no single treatment.…”

“…Prevalence estimation is approximately 1 in 10,000 persons; 9 however 1 per 20,000-50,000 live births has been reported. 3,6 Furthermore, the disorder has no sex, race or ethnic predilection. 3,4 The physical phenotype includes typical facial dysmorphism (elfin-like face), 10 young children are often described as cute or pixie-like, with a flat nasal bridge, short upturned nose, periorbital puffiness, long philtrum and delicate chin, whereas older patients have slightly coarse features, with full lips, a wide smile and full nasal tip.…”