Apparent postnatal onset of some manifestations of the Wiedemann‐Beckwith syndrome

Chitayat, David; Rothchild, Avi; Ling, Emily; Friedman, Jan M.; Couch, Robert; Yong, Siu Li; Baldwin, Virginia J.; Hall, Judith G.

doi:10.1002/ajmg.1320360412

Cited by 40 publications

(24 citation statements)

References 24 publications

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“…subjective Comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally [Chitayat et al, 1990]. Posterior helical pits can be a related finding but should be assessed and coded separately.…”

Section: Lobe Anterior Crease(s)mentioning

confidence: 99%

Elements of morphology: Standard terminology for the ear

Hunter

Frías

Gillessen‐Kaesbach

et al. 2009

American J of Med Genetics Pt A

130

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An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the ear and define and illustrate the terms that describe the major characteristics of the ear.

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Section: Lobe Anterior Crease(s)mentioning

confidence: 99%

Elements of morphology: Standard terminology for the ear

Hunter

Frías

Gillessen‐Kaesbach

et al. 2009

American J of Med Genetics Pt A

130

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“…Additionally, a proportion of children with BWS will face significant medical management issues and these are addressed in detail elsewhere [Chitayat et al, 1990b;Breslow et al, 1991;Goldman et al, 2003;Weksberg and Shuman, 2004].…”

Section: Clinical Evaluationmentioning

confidence: 99%

Beckwith–Wiedemann syndrome

Weksberg

Shuman²,

Smith

2005

American J of Med Genetics Pt C

273

201

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Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype-phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre-implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling.

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“…The true birth prevalence is thought to be even higher due to milder, unrecognized clinical presentations 3,30 . The clinical diagnosis of BWS is made using previously designed criteria 7,12,44 .…”

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confidence: 99%