The Wiedemann-Beckwith Syndrome: Genetic Considerations and a Diagnostic Sign

Kosseff, AndrewL.; Herrmann, J.; Opitz, JohnM.

doi:10.1016/s0140-6736(72)90825-2

Cited by 37 publications

(19 citation statements)

References 3 publications

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“…In the families described by Irving,2 Kosseff et al, 4 Forrester,5 and Sommer et al,7 the affected children were all born to female family members (a point first noted by Lubinsky et a18) and this raises the possibility of a familial maternal environmental effect. This idea, however, is complicated by the family reported by Matsuura et all' in which the three affected members are related through their fathers.…”

Section: Case Reportmentioning

confidence: 97%

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

Berry¹,

Belton²,

Chantler³

1980

Journal of Medical Genetics

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SUMMARY A pair of monozygous twins discordant for Wiedemann-Beckwith syndrome is described and published reports reviewed to establish the mode of inheritance. Single gene control seems unlikely and it is proposed that the condition arises from the interaction of 'at risk' genes in the fetus and metabolic factors in the mother, which suggests multifactorial control.The Wiedemann-Beckwith syndrome (WBS), also called exomphalos-macroglossia-gigantism syndrome, was first described in 1964 by Wiedemann," and his reported family included three affected sibs.

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Section: Case Reportmentioning

confidence: 97%

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

Berry¹,

Belton²,

Chantler³

1980

Journal of Medical Genetics

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“…Initially, recurrences in families suggested an autosomal recessive trait [Wiedemann, 1964;Filippe and McKusick, 1970;Beckwith, 1969;Chenke, 19761. In 1972, Kosseff et a1 suggested irregular autosomal dominant transmission and the findings of variable expressivity and incomplete penetrance were proposed as secondary to a delayed mutation of a premutated allele [Kosseff et al, 1972;Kosseff et al, 1976;Best and Hoekstra, 19811. Other investigators have suggested multifactorial inheritance as an explanation for familial recurrences [Wiedemann, 1973;Gardner, 1973;Berry et al, 19801.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of the Beckwith‐Wiedemann syndrome

et al. 1986

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We report on the prenatal diagnosis of Beckwith-Wiedemann syndrome (BWS) in a pregnancy monitored because of a previously affected child. The proposita had classical stigmata of BWS including macroglossia, omphalocele, and typical ear creases. Chromosomes were 46,XX. Both parents and the extended maternal family were clinically normal. In a subsequent pregnancy by another father, the mother had serial ultrasound monitoring at 13.5, 18, and 19 weeks gestation which showed an enlarged abdominal circumference and a 2-cm omphalocele. At termination the female fetus weighed more than two times the expected weight, had striking hypertrophy of skeletal muscles, a protuberant abdomen, and a 2-cm omphalocele and characteristic facial appearance. Autopsy confirmed generalized organomegaly. This is the first report of the prenatal diagnosis of BWS prior to 20 weeks in an at-risk family. The recurrence in this family emphasizes the difficulty in providing accurate genetic recurrence risks in BWS and suggests that ultrasonographic prenatal diagnosis should be offered to families even when the case appears to be "sporadic."

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“…Since PHEP was apparently not described until 1972 [Kosseff et al, 1972] when it was found in WBS, one would be tempted to conclude that the locus for this anomaly in familial cases would lie very close to if not be identical with that of the WBS. While there do seem to be familial instances of PHEP without any coincident WBS known in the family, it seems unlikely that two such rare phenotypes are not casually related when found together in the same family.…”

Section: Discussionmentioning

confidence: 99%

“…Soon it was recognized that embryonal tumors (e.g., Wilms tumor) and hemihyperplasia occurred more frequently in patients with WBS [Wiedemann, 1969;Irving, 1970]. Many other minor anomalies have since been described in the syndrome, including posterior helical ear pits (PHEP) [Kosseff et al, 1972]. This phenotype does not seem to appear in the prior literature of ear malformations but was shown to occur in several large pedigrees with autosomal inheritance [Best, 1991].…”

Section: Introductionmentioning

confidence: 99%

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith Syndrome

Barr¹,

Best²,

Weksberg³

2001

Am. J. Med. Genet.

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The Wiedemann-Beckwith syndrome (WBS) is defined by a group of anomalies, including macrosomia, macroglossia, omphalocele, and ear creases. Several minor anomalies have also been reported in the syndrome, including posterior helical ear pits (PHEP). Two independent linkage studies of pedigrees with autosomal dominant inheritance have shown linkage of WBS to 11p15.5 markers. Further confirming the location of WBS to this location is the finding of 11p15.5 duplications and translocations, as well as uniparental disomy for a small area of 11p15.5. In this study, members of previously described families exhibiting autosomal dominant inheritance of the PHEP phenotype were genotyped for three markers in the 11p15.5 region. These three markers were in the insulin-like growth factor (IGF2), insulin (INS), and tyrosine hydroxylase (TH) region. The data were examined by linkage analysis using the same genetic model used previously to demonstrate linkage of WBS to markers on chromosome 11p15.5: an autosomal dominant model with a penetrance of 0.90 and a gene frequency of 0.001. In one large pedigree, linkage analysis of the 11p15.5 markers excluded the PHEP phenotype from the IGF2, INS, and TH region. In the four other pedigrees examined, the marker loci were not sufficiently informative or the pedigrees did not provide sufficient power to exclude linkage from this region. The strongest evidence against linkage of the PHEP phenotype to 11p15.5 was evident by inspection of the segregation of the haplotypes of the markers in the pedigrees. In two informative pedigrees, relatives with the PHEP phenotype did not share the same haplotype of markers identical by descent. Our results show that the PHEP phenotype is not linked to chromosome 11p15.5 in the informative families tested. In the families examined, there are not enough individuals with WBS to determine if WBS was linked to 11p15.5 in these families. Although locus heterogeneity has not been demonstrated in WBS, it is possible that a second WBS locus exists and that the PHEP phenotype in these families is linked to a second WBS locus. Alternatively, the PHEP phenotype may occur independently of WBS so that the association of WBS and PHEP in our pedigrees may, in fact, represent causal heterogeneity.

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The Wiedemann-Beckwith Syndrome: Genetic Considerations and a Diagnostic Sign

Cited by 37 publications

References 3 publications

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

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

Prenatal diagnosis of the Beckwith‐Wiedemann syndrome

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith Syndrome

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