Literature DB >> 8092184

Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time.

A G Hunter1, J E Allanson.   

Abstract

We have carried out a follow-up study of 13 children with Wiedemann-Beckwith syndrome (WBS) using a standard protocol which included facial anthropometric measurements. We confirm that most patients with WBS do well and that their clinical abnormalities become less apparent with age. We suggest that there is a characteristic neonatal appearance in WBS and that the expected pattern of facial growth generally results in a normal appearance by mid- to late childhood. We tentatively propose that there is a distinct facial anthropometric pattern profile in WBS.

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Year:  1994        PMID: 8092184     DOI: 10.1002/ajmg.1320510205

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Authors:  J E Allanson; R C Hennekam; M Ireland
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Authors:  Alessandro Mussa; Licia Peruzzi; Nicoletta Chiesa; Agostina De Crescenzo; Silvia Russo; Daniela Melis; Luigi Tarani; Giuseppina Baldassarre; Lidia Larizza; Andrea Riccio; Margherita Silengo; Giovanni Battista Ferrero
Journal:  Pediatr Nephrol       Date:  2011-10-21       Impact factor: 3.714

Review 3.  Medical complications of achondroplasia: a multicentre patient review.

Authors:  A G Hunter; A Bankier; J G Rogers; D Sillence; C I Scott
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

  3 in total

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