Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel
- 1 January 1977
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 1 (1) , 59-63
- https://doi.org/10.1002/ajmg.1320010107
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.Keywords
This publication has 2 references indexed in Scilit:
- Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndromeEuropean Journal of Pediatrics, 1976
- Exomphalos-Makroglossie-Gigantismus-Syndrom, Berardinelli-Seip-Syndrom und Sotos-Syndrom —eine vergleichende Betrachtung unter ausgewählten AspektenEuropean Journal of Pediatrics, 1973