The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
M Gunay-Aygun, S Schwartz, S Heeger… - …, 2001 - publications.aap.org
Background. Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major
clinical features include neonatal hypotonia, developmental delay, short stature, behavioral
abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic
appearance. 1, 2 The genetic basis of PWS is also complex. It is caused by absence of
expression of the paternally active genes in the PWS critical region on 15q11-q13. In
approximately 70% of cases this is the result of deletion of this region from the paternal …
clinical features include neonatal hypotonia, developmental delay, short stature, behavioral
abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic
appearance. 1, 2 The genetic basis of PWS is also complex. It is caused by absence of
expression of the paternally active genes in the PWS critical region on 15q11-q13. In
approximately 70% of cases this is the result of deletion of this region from the paternal …