Literature DB >> 2456379

Natural history of Williams syndrome: physical characteristics.

C A Morris1, S A Demsey, C O Leonard, C Dilts, B L Blackburn.   

Abstract

The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was investigated. A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found. Despite multiple medical problems in infancy, including feeding problems, failure to thrive, colic, and otitis media, mean age at diagnosis was 6.4 years. Developmental disabilities and cardiovascular disease were the major concerns in childhood. The older children developed progressive joint limitation and hypertonia. Adult patients were handicapped by their developmental disabilities. Hypertension, and gastrointestinal and genitourinary problems occurred frequently. Independent living and competitive employment were limited less by the individual's physical problems than by the psychologic and adaptive limitations. Williams syndrome is a progressive disorder with multisystem involvement.

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Year:  1988        PMID: 2456379     DOI: 10.1016/s0022-3476(88)80272-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  104 in total

1.  Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

Authors:  Udaya DeSilva; Laura Elnitski; Jacquelyn R Idol; Johannah L Doyle; Weiniu Gan; James W Thomas; Scott Schwartz; Nicole L Dietrich; Stephen M Beckstrom-Sternberg; Jennifer C McDowell; Robert W Blakesley; Gerard G Bouffard; Pamela J Thomas; Jeffrey W Touchman; Webb Miller; Eric D Green
Journal:  Genome Res       Date:  2002-01       Impact factor: 9.043

2.  Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

Authors:  J Jaeken; M Detheux; J P Fryns; J F Collet; P Alliet; E Van Schaftingen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

3.  High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Authors:  B R Pober; E Wang; S Caprio; K F Petersen; C Brandt; T Stanley; L R Osborne; J Dzuria; B Gulanski
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

4.  "You have to sit and explain it all, and explain yourself." Mothers' experiences of support services for their offspring with a rare genetic intellectual disability syndrome.

Authors:  Gemma Maria Griffith; Richard P Hastings; Susie Nash; Michael Petalas; Chris Oliver; Patricia Howlin; Joanna Moss; Jane Petty; Penelope Tunnicliffe
Journal:  J Genet Couns       Date:  2011-01-04       Impact factor: 2.537

5.  The relationship of age, gender, and IQ with the brainstem and thalamus in healthy children and adolescents: a magnetic resonance imaging volumetric study.

Authors:  Yuhuan Xie; Yian Ann Chen; Michael D De Bellis
Journal:  J Child Neurol       Date:  2011-09-27       Impact factor: 1.987

6.  Cardiovascular manifestations in 75 patients with Williams syndrome.

Authors:  M Eronen; M Peippo; A Hiippala; M Raatikka; M Arvio; R Johansson; M Kähkönen
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

7.  Theory of mind in Williams syndrome assessed using a nonverbal task.

Authors:  Melanie A Porter; Max Coltheart; Robyn Langdon
Journal:  J Autism Dev Disord       Date:  2008-05

8.  Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Authors:  D Kotzot; F Bernasconi; L Brecevic; W P Robinson; P Kiss; G Kosztolanyi; I W Lurie; A Superti-Furga; A Schinzel
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

9.  Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.

Authors:  Timothy A Hinsley; Pamela Cunliffe; Hannah J Tipney; Andrew Brass; May Tassabehji
Journal:  Protein Sci       Date:  2004-10       Impact factor: 6.725

Review 10.  Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

Authors:  Barbara R Pober; Mark Johnson; Zsolt Urban
Journal:  J Clin Invest       Date:  2008-05       Impact factor: 14.808

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