[Prader-Willi syndrome].
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 confirmed 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. Methylation 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.
Beccaria
L
L
Clinica Pediatrica III, Centro di Endocrinologia Infantile e dell'Adolescenza, IRCCS Istituto Scientifico H San Raffaele, Università degli Studi, Milano.
Bosio
L
L
Benzi
F
F
Bregani
P
P
Achutegui
I
I
Chiumello
G
G
Livieri
C
C
Trifirò
G
G
de Toni
T
T
Iughetti
L
L
Ragusa
L
L
Salvatoni
A
A
Tonini
G
G
Corrias
A
A
Crinò
A
A
D003937:Diagnosis, Differential; D006128:Growth; D013006:Growth Hormone / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000523:psychology; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D011627:Puberty; D012737:Sex Factors
D013006:Growth Hormone