Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel.
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.
D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D005877:Gigantism / Q000235:genetics*; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008260:Macroglossia / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D012886:Skull; D013577:Syndrome