eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | williams syndrome |
| Comorbidity | C0025362|mental retardation |
| Sentences | 2 |
| PubMedID- 19752158 | A triplication of the williams-beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. |
| PubMedID- 24494042 | The experts concluded that this was most likely due to vitamin d intoxication since a similar presentation had been observed in neonatal rodents born of mothers who were fed high doses of vitamin d.20-22 legislation quickly followed banning the fortification of any food or personal use products with vitamin d in great britain.8,17,22 this ban quickly spread across europe and for the most part remains in effect today with the exception of a few foods including margarine and some cereals being fortified with vitamin d.8,19-22 it is however likely that these children had williams syndrome which is associated with elfin faces, mental retardation, heart problems, and hypercalcemia due to a hypersensitivity to vitamin d.23 sweden and finland now permit milk to be fortified with vitamin d.22,24 it is worth noting that milk has been fortified with 100 iu vitamin d/8 oz for the past 80+ years without any reports of toxicity in infants. |
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