Síndrome de Williams-Beuren. Estudio de un caso
ISSN: 2444-7986, 2444-7986
Ano de publicación: 2011
Volume: 2
Tipo: Artigo
Outras publicacións en: Revista ORL
Resumo
The Williams-Beuren syndrome,that we are going to describe, attends with language disorders and hearing problems, reason why we consider interesting study basing on a case rated at Phoniatrics area. This is a prospective study originated since a girl of 18 months arrived to us referred by the Child Neurology Service of Salamanca to her language and development and followed until today. This Syndrome was first described in 1961 by a New Zealand doctor called Dr. Williams, who reported a clinically complex report showing up the most marked symptoms consisted of a characteristic expression of the face, the existence of mental disabilities and a flaw cardiac since birth. Three years later, Professor Beuren, would demostrated that apart from the characteristics mentioned before , sometimes we could find pulmonary stenosis too. This affection is also known as idiopathic hypercalcemia due to increased blood calcium levels usually in the early years of life. The proportion of cases reported is around one by 20,000 births and is caused by a �de novo� genetic alteration in chromosome 7.
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