Am J Med Genet. 1977;1(1):59-63.

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

Sommer A, Cutler EA, Cohen BL, Harper D, Backes C.

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.

PMID:: 610426; [PubMed - indexed for MEDLINE]

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[Wiedemann and Beckwith syndrome: a new familial case]. [J Genet Hum. 1980]
[Wiedemann and Beckwith syndrome: a new familial case].
Piussan C, Risbourg B, Lenaerts C, Delvallez N, Gontier MF, Vitse M. J Genet Hum. 1980 Sep; 28(3):281-91.
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Cited by 3 PubMed Central articles

Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling. [J Med Genet. 1980]
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Berry AC, Belton EM, Chantler C. J Med Genet. 1980 Apr; 17(2):136-8.
Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. [Am J Hum Genet. 1986]
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Spritz RA, Mager D, Pauli RM, Laxova R. Am J Hum Genet. 1986 Aug; 39(2):265-73.
Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. [J Med Genet. 1992]
Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.
Viljoen D, Ramesar R. J Med Genet. 1992 Apr; 29(4):221-5.

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

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