skip to main content
Idioma:
Tipo de recurso Mostra resultados com: Mostra resultados com: Índice

Williams syndrome: An historical perspective of its evolution, natural history, and etiology

Lee Jones, Kenneth

American journal of medical genetics, 1990, Vol.37 (S6), p.89-96

New York: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
  • Título:
    Williams syndrome: An historical perspective of its evolution, natural history, and etiology
  • Autor: Lee Jones, Kenneth
  • Assuntos: calcitonin ; calcitonin-gene-related peptide ; hypercalcemia ; supravalvular aortic stenosis ; vitamin D
  • É parte de: American journal of medical genetics, 1990, Vol.37 (S6), p.89-96
  • Notas: ark:/67375/WNG-197HXMZP-3
    ArticleID:AJMG1320370616
    istex:C2B0E38B39FF2B1C59F247BDCC1E42169FA8D947
  • Descrição: This review examines the Williams syndrome (WS) from an historical perspective, beginning with the early descriptions of idiopathic infantile hypercalcemia (IIH) and ending with some speculative ideas about a possible causative function of a recently discovered neuropeptide. The earliest reports of WS individuals are probably those which describe a “severe” subgroup of IIH and separate it from the epidemic of milder IIH reported in Post‐WWII Great Britain and Europe. Most of these latter cases apparently resulted from hyper‐vitaminosis D produced by excessive supplementation of government‐supplied infant foods. With more extensive recognition and reporting of this “severe” subgroup, the diagnostic constellation of IIH, mental deficiency, elfin face, and supravalvular aortic stenosis (SVAS) evolved as WS. More of these reports emphasized the physical and behavioral manifestations as the key diagnostic features, and the frequency of occurrence and relative importance of SVAS and IIH in WS decreased. Despite the diminished consequence of hypercalcemia, calcium and vitamin D have continued to dominate the investigation of the cause of infantile hypercalcemia and led to the proposal and confirmation of deficient calcitonin secretion in individuals with WS. Though calcitonin is probably pertinent only to infantile hypercalcemia, its alternative gene product, calcitonin‐gene‐related product, is an important neuropeptide with physiological effects in the central nervous system and cardiovascular systems which raise the possibility that it may be responsible for some of the manifestations of WS.
  • Editor: New York: Wiley Subscription Services, Inc., A Wiley Company
  • Idioma: Inglês
Links
Voltar para lista de resultados
Resultado  1 AvançarIr para próxima página

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.