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J Med Genet. 1976 June; 13(3): 223–228. | PMCID: PMC1013397 |
Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. D M Becroft and D Chambers Abstract The incidence of cytoplasmic metachromasia has been studied in cultures of skin fibroblasts derived from 6 cases of the syndrome of supravalvular aortic stenosis, characteristic facies, and mental retardation which in many instances represents the late normocalcaemic stage of the severe form of infantile hypercalcaemia. The percentage of metachromatic cells (mean positivity 7.3%) was significantly higher than in control cultures. The addition of vitamin D2 and calcium to culture media caused a highly significant increase in metachromatic cells (mean positivity in supplemented media 16.1%) compared with a lesser increase in controls. These findings strengthen previous suggestions that there is a genetically determined hypersensitivity to vitamin D in some cases of the syndrome. A multifactorial aetiology is proposed, dependent on a variable genetic susceptibility of fetal connective tissues to a non-physiological effect of D vitamins and a variable level of maternal vitamin D nutrition. Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (885K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References. These references are in PubMed. This may not be the complete list of references from this article. - Antia AU, Wiltse HE, Rowe RD, Pitt EL, Levin S, Ottesen OE, Cooke RE. Pathogenesis of the supravalvular aortic stenosis syndrome. J Pediatr. 1967 Sep;71(3):431–441. [PubMed]
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