Bloom's syndrome

Keutel, J; Marghescu, S; Teller, W. M.

doi:10.1007/bf00439698

Cited by 13 publications

(2 citation statements)

References 28 publications

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“…The lower row all have prominent foreheads and small facial bones. Bloom syndrome—note rash in sun‐exposed area [from Keutel et al, 1967]. Dubowitz syndrome—note short palpebral fissures, missing lateral eyebrows and eczema like changes on cheeks [from Gorlin et al, 2001, p. 378].…”

Section: Methods and Resultsmentioning

confidence: 99%

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Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?

Hall

2010

American J of Med Genetics Pt A

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Diagnosing the specific type of severe intrauterine growth restriction (IUGR) that also has post-birth growth restriction is often difficult. Eight relatively common syndromes are discussed identifying their unique distinguishing features, overlapping features, and those features common to all eight syndromes. Many of these signs take a few years to develop and the lifetime natural history of the disorders has not yet been completely clarified. The theory behind developmental origins of adult health and disease suggests that there are mammalian epigenetic fetal survival mechanisms that downregulate fetal growth, both in order for the fetus to survive until birth and to prepare it for a restricted extra-uterine environment, and that these mechanisms have long lasting effects on the adult health of the individual. Silver-Russell syndrome phenotype has recently been recognized to be related to imprinting/methylation defects. Perhaps all eight syndromes, including those with single gene mutation origin, involve the mammalian mechanism(s) of fetal survival downsizing. Insights into those mechanisms should provide avenues to understanding the natural history, the heterogeneity and possible therapy not only for these eight syndromes, but for the common adult diseases with which IUGR is associated.

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Section: Methods and Resultsmentioning

confidence: 99%

“…This is usually noticed by 2 years of age. There are often feeding problems in the newborn period [Keutel et al, 1967]. A high squeaky voice may be noted.…”

Section: Methods and Resultsmentioning

confidence: 99%