+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



American Journal of Medical Genetics 51(2): 102-107



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 031480386

Download citation: RISBibTeXText

PMID: 8092184

DOI: 10.1002/ajmg.1320510205


Related references

Premature infant with Wiedemann-Beckwith syndrome: postnatal changes in facial appearance and somatic phenotype. American Journal of Medical Genetics 57(4): 635-636, 1995

Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram. Clinics 64(1): 41-44, 2009

An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 31(4): 365-372, 1986

Characterization of breakpoints associated with the beckwith wiedemann syndrome and aniridia evidence for involvement of genomic imprinting in the beckwith wiedemann syndrome. American Journal of Human Genetics 49(4 Suppl.): 148, 1991

Antenatal sonographic appearance of Beckwith-Wiedemann syndrome. Journal of Clinical Ultrasound 14(1): 57-59, 1986

The pre and postnatal appearance of the kidneys in Beckwith-Wiedemann Syndrome. Australasian Radiology 27(1): 30-32, 1983

Cranio-facial manifestations of Beckwith-Wiedemann syndrome. Journal of the Irish Dental Association 39(5): 125-127, 1993

Sonographic appearance of placental villous hydrops associated with Beckwith-Wiedemann syndrome. Journal of Ultrasound in Medicine 14(1): 61-64, 1995

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome. Journal of Craniofacial Surgery 19(1): 279-283, 2008

Longitudinal follow-up in 14 probands with Beckwith-Wiedemann syndrome. American Journal of Human Genetics 51(4 Suppl. ): A311, 1992

Oral facial, speech and swallowing functioning in 56 children with Beckwith Wiedemann syndrome. Pediatric Research 39(4 Part 2): 148A, 1996

Malignancy risk and Wiedemann-Beckwith syndrome: what follow-up to provide?. Archives de Pediatrie 15(9): 1498-1502, 2008

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. European Journal of Medical Genetics 59(1): 52-64, 2016

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome. Turkish Journal of Pediatrics 56(2): 177-182, 2016