La sindrome di Prader-Willi

Translated title of the contribution: Prader-Willi syndrome

Luciano Beccaria, Laura Bosio, Francesca Benzi, Palma Bregani, Irune Achutegui, Giuseppe Chiumello, Chiara Livieri, Giuliana Trifirò, Teresa De Toni, Lorenzo Iughetti, Letizia Ragusa, Alessandro Salvatoni, Giorgio Tonini, Andrea Corrias, E. Antonino Crinò

Research output: Contribution to journalArticle

Abstract

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confermed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Metilation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

Original languageItalian
Pages (from-to)221-232
Number of pages12
JournalAnnali dell'Istituto Superiore di Sanita
Volume35
Issue number2
Publication statusPublished - 1999

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ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health

Cite this

Beccaria, L., Bosio, L., Benzi, F., Bregani, P., Achutegui, I., Chiumello, G., Livieri, C., Trifirò, G., De Toni, T., Iughetti, L., Ragusa, L., Salvatoni, A., Tonini, G., Corrias, A., & Crinò, E. A. (1999). La sindrome di Prader-Willi. Annali dell'Istituto Superiore di Sanita, 35(2), 221-232.