Literature DB >> 2797983

Contractures in patients with Williams syndrome.

P Kaplan1, M Kirschner, G Watters, M T Costa.   

Abstract

Williams syndrome is a multisystem disorder, including a characteristic facies and habitus. Intellectual, neurologic, and cardiovascular dysfunction occur; vascular disease may be progressive. Joint contractures affected 10 of a group of 20 children and young adults. In 3 of 10 patients, the contractures were severe enough to interfere with daily activities; in 3 the effect was only moderate. The contractures developed in early childhood and usually did not improve or worsen with time. Large and small joints were affected and usually were symmetrical. Their occurrence did not correlate with vascular disease. The contractures could not be attributed to a neurologic cause.

Entities:  

Mesh:

Year:  1989        PMID: 2797983

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  7 in total

1.  Radio-ulnar synostosis in Williams syndrome. A frequently associated anomaly.

Authors:  K A Charvat; L Hornstein; A E Oestreich
Journal:  Pediatr Radiol       Date:  1991

Review 2.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

Review 3.  Elastic fibers in orthopedics: Form and function in tendons and ligaments, clinical implications, and future directions.

Authors:  Jeffrey Ryan Hill; Jeremy D Eekhoff; Robert H Brophy; Spencer P Lake
Journal:  J Orthop Res       Date:  2020-04-28       Impact factor: 3.494

4.  Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.

Authors:  I Borg; J D Delhanty; M Baraitser
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

5.  De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

Authors:  L Telvi; J M Pinard; R Ion; P M Sinet; A Nicole; J Feingold; O Dulac; A Pompidou; G Ponsot
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  Myopathy in Williams-Beuren syndrome.

Authors:  T Voit; H Kramer; C Thomas; W Wechsler; H Reichmann; H G Lenard
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

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

Authors:  Marcelo Loquette Damasceno; Alexandre Fogaça Cristante; Raphael Martus Marcon; Tarcísio Eloy Pessoa de Barros Filho
Journal:  Clinics (Sao Paulo)       Date:  2014-07       Impact factor: 2.365

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.