Vitamin-D-Binding Protein in the Williams Syndrome and Idiopathic Hypercalcemia
- 23 March 1978
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 298 (12) , 687-688
- https://doi.org/10.1056/nejm197803232981215
Abstract
To the Editor: We have investigated the role of the vitamin-D-binding protein (group-specific component, Gc)1 in the cause of two disorders of calcium metabolism.The Williams syndrome (WS) is a congenital disorder characterized by mental and mild growth deficiency, "elfin" facies, supravalvular aortic stenosis and, occasionally, elevated blood calcium. Epidemiologic and anecdotal evidence suggests that WS may be associated with hypersensitivity to vitamin D or excess ingestion of the vitamin during pregnancy.2 , 3 Also, vitamin D given in large doses to pregnant rabbits crosses the placenta and produces fetal lesions similar to human supravalvular aortic stenosis,4 and craniofacial and dental abnormalities . . .Keywords
This publication has 12 references indexed in Scilit:
- Familial occurrence of the Williams syndromeThe Journal of Pediatrics, 1977
- Immunological and immunoassay studies of the binding protein for vitamin D and its metabolites in human serum.Journal of Clinical Investigation, 1977
- Radioimmunoassay of the binding protein for vitamin D and its metabolites in human serum: concentrations in normal subjects and patients with disorders of mineral homeostasis.Journal of Clinical Investigation, 1976
- Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium.Journal of Medical Genetics, 1976
- The Williams elfin facies syndromeThe Journal of Pediatrics, 1975
- Possible Dominant Inheritance of the Idiopathic Hypercalcemic SyndromeHuman Heredity, 1975
- Familial benign hypercalcemiaThe Journal of Pediatrics, 1972
- B-F Chromosome Translocation Associated with Father-Child Incompatibility within the Gc-SystemHuman Heredity, 1969
- Vitamin D and the Supravalvar Aortic Stenosis SyndromeCirculation, 1966
- Metabolic studies in a patient with idiopathic bypercalcemia of infancyThe Journal of Pediatrics, 1963