Literature DB >> 610426

Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel.

A Sommer, E A Cutler, B L Cohen, D Harper, C Backes.   

Abstract

We describe a family in which 3 sisters gave birth to 8 infants with the Wiedemann-Beckwith syndrome. The clinical manifestations in all the affected individuals included macroglossia, macrosomia and omphalocele, while their mothers all were entirely normal. Pedigree analysis suggests that familial occurrence of the Wiedemann-Beckwith syndrome may be due to delayed mutation.

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Mesh：

Year:  1977        PMID： 610426     DOI： 10.1002/ajmg.1320010107

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


  5 in total

1.  Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Authors:  D Viljoen; R Ramesar
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

2.  Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.

Authors:  Michael F Wangler; Ping An; Andrew P Feinberg; Michael Province; Michael R Debaun
Journal:  Am J Med Genet A       Date:  2005-08-15       Impact factor: 2.802

3.  Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

Authors:  M J Pettenati; J L Haines; R R Higgins; R S Wappner; C G Palmer; D D Weaver
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

4.  Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.

Authors:  A C Berry; E M Belton; C Chantler
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

5.  Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

Authors:  R A Spritz; D Mager; R M Pauli; R Laxova
Journal:  Am J Hum Genet       Date:  1986-08       Impact factor: 11.025
  5 in total

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