Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel

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...

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Veröffentlicht in:American journal of medical genetics 1977, Vol.1 (1), p.59-63
Hauptverfasser: Sommer, Annemarie, Cutler, Edward A., Cohen, Benjamin L., Harper, Dwain, Backes, Carl, Herrmann, J.
Format: Artikel
Sprache:eng
Schlagworte:
Child, Preschool
delayed mutation
familial occurrence
Female
Follow-Up Studies
Genes, Dominant
Gigantism - genetics
Hernia, Umbilical - genetics
Humans
Infant
Infant, Newborn
Macroglossia - genetics
Male
Mutation
Pedigree
persistent fontanel
Skull
Syndrome
Wiedemann-Beckwith syndrome
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Beschreibung
Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320010107